Canonical Allele Identifier: CA2391566837
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289764C= , CM000683.2:g.44289764C= GRCh38
NC_000021.8:g.45709647C= , CM000683.1:g.45709647C= GRCh37
NC_000021.7:g.44534075C= NCBI36
NG_009556.1:g.8885C= , LRG_18:g.8885C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.760C= MANE Select ENSP00000291582.5:p.Pro254=
ENST00000291582.5:c.760C= ENSP00000291582.5:p.Pro254=
ENST00000527919.5:n.1493C=
ENST00000530812.5:n.2510C=
NM_000383.3:c.760C= NP_000374.1:p.Pro254=
XM_011529551.1:c.760C= XP_011527853.1:p.Pro254=
NM_000383.4:c.760C= MANE Select NP_000374.1:p.Pro254=