Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
- Genomic alignments
- Gene tree
- Gene gain/loss tree
- Orthologues
- Paralogues
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: AMBN ENSG00000178522

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Description

ameloblastin [Source:HGNC Symbol;Acc:HGNC:452]

Location

Chromosome 4: 70,592,256-70,607,288 forward strand.

GRCh38:CM000666.2

About this gene

This gene has 2 transcripts (splice variants), 103 orthologues and is associated with 2 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq Match	Flags
ENST00000322937.10	AMBN-201	2005	447aa	ENSP00000313809.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS3543	Q9NP70-1	NM_016519.6	The Matched Annotation from NCBI and EMBL-EBI is a collaboration between Ensembl/GENCODE and RefSeq. The MANE Select is a default transcript per human gene that is representative of biology, well-supported, expressed and highly-conserved. This transcript set matches GRCh38 and is 100% identical between RefSeq and Ensembl/GENCODE for 5' UTR, CDS, splicing and 3'UTR.MANE Select, A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1, TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:1,
ENST00000449493.2	AMBN-202	1512	432aa	ENSP00000391234.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q9NP70-2	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, TSL 5: A transcript where no single transcript supports the model structure. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:5,

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Summary

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