Human (GRCh38.p14)
Description

USH1 protein network component harmonin [Source:HGNC Symbol;Acc:HGNC:12597]

Gene Synonyms

AIE-75, DFNB18, HARMONIN, NY-CO-37, NY-CO-38, PDZ-73, PDZ73, PDZD7C

Location

Chromosome 11: 17,493,895-17,544,416 reverse strand.

GRCh38:CM000673.2

About this gene

This gene has 11 transcripts (splice variants), 199 orthologues, 2 paralogues and is associated with 6 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000005226.12USH1C-2013241899aaENSP00000005226.7
 
Protein coding
CCDS7825Q9Y6N9-5 NM_153676.4MANE SelectEnsembl CanonicalGENCODE basicTSL:5
ENST00000527720.5USH1C-2072278521aaENSP00000432944.1
 
Protein coding
Q9Y6N9-2 -GENCODE basicTSL:1
ENST00000318024.9USH1C-2022232552aaENSP00000317018.4
 
Protein coding
CCDS31438Q9Y6N9-1 NM_005709.4MANE Plus ClinicalGENCODE basicAPPRIS P1TSL:1
ENST00000527020.5USH1C-2052159533aaENSP00000436934.1
 
Protein coding
CCDS73265Q9Y6N9-4 -GENCODE basicTSL:1
ENST00000526181.1USH1C-2031040317aaENSP00000437128.1
 
Protein coding
E9PNW1 -TSL:5CDS 3' incomplete
ENST00000526313.5USH1C-2042149403aaENSP00000432236.1
 
Nonsense mediated decay
Q9Y6N9-3 -TSL:1
ENST00000529563.5USH1C-208942No protein-
 
Protein coding CDS not defined
--TSL:2
ENST00000530700.1USH1C-209403No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000527551.1USH1C-206371No protein-
 
Retained intron
--TSL:2
ENST00000534556.1USH1C-210244No protein-
 
Retained intron
--TSL:3
ENST00000624811.1USH1C-2111194No protein-
 
TEC
--TSL:NA