Human (GRCh38.p14)
Description

torsin family 1 member A [Source:HGNC Symbol;Acc:HGNC:3098]

Gene Synonyms

DQ2, DYT1

Location

Chromosome 9: 129,812,942-129,824,244 reverse strand.

GRCh38:CM000671.2

About this gene

This gene has 5 transcripts (splice variants), 265 orthologues, 4 paralogues and is associated with 4 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000351698.5TOR1A-2012080332aaENSP00000345719.4
 
Protein coding
CCDS6930O14656-1 NM_000113.3MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000651202.1TOR1A-2052285315aaENSP00000498222.1
 
Protein coding
A0A494BZT7 -GENCODE basic
ENST00000473084.1TOR1A-2021668No protein-
 
Protein coding CDS not defined
--TSL:1
ENST00000473604.2TOR1A-2031055No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000474192.1TOR1A-204947No protein-
 
Protein coding CDS not defined
--TSL:3