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Human (GRCh38.p14)
Description

autoimmune regulator [Source:HGNC Symbol;Acc:HGNC:360]

Gene Synonyms

APECED, APS1, PGA1

Location

Chromosome 21: 44,285,838-44,298,648 forward strand.

GRCh38:CM000683.2

About this gene

This gene has 6 transcripts (splice variants), 172 orthologues, 5 paralogues and is associated with 4 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000291582.6AIRE-2012690545aaENSP00000291582.5
 
Protein coding
CCDS13706O43918-1 NM_000383.4MANE SelectEnsembl CanonicalGENCODE PrimaryGENCODE BasicAPPRIS P2TSL:1
ENST00000966178.1AIRE-2062678544aaENSP00000636237.1
 
Protein coding
--GENCODE PrimaryGENCODE BasicAPPRIS ALT2
ENST00000530812.5AIRE-2054306No protein-
 
Retained intron
--TSL:2
ENST00000527919.5AIRE-2042409No protein-
 
Retained intron
--TSL:2
ENST00000337909.5AIRE-2021361No protein-
 
Retained intron
--TSL:1
ENST00000397994.8AIRE-2031279No protein-
 
Retained intron
--TSL:5