Human (GRCh38.p14)
Description

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

Gene Synonyms

APECED, APS1, PGA1

Location
About this transcript

This transcript has 14 exons, is annotated with 43 domains and features, is associated with 7960 variant alleles and maps to 480 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000291582.6AIRE-2012690545aaENSP00000291582.5
 
Protein coding
CCDS13706O43918-1 NM_000383.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
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
Statistics

Exons: 14, Coding exons: 14, Transcript length: 2,690 bps, Translation length: 545 residues

MANE

This MANE Select transcript contains ENSP00000291582 and matches to NM_000383.4 and NP_000374.1

Uniprot

This transcript corresponds to the following Uniprot identifiers: O43918

CCDS

This transcript is a member of the Human CCDS set: CCDS13706

Transcript Support Level (TSL)

TSL:1

Version

ENST00000291582.6

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.