Canonical Allele Identifier: CA2391566845
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289778C= , CM000683.2:g.44289778C= GRCh38
NC_000021.8:g.45709661C= , CM000683.1:g.45709661C= GRCh37
NC_000021.7:g.44534089C= NCBI36
NG_009556.1:g.8899C= , LRG_18:g.8899C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.774C= MANE Select ENSP00000291582.5:p.Ala258=
ENST00000291582.5:c.774C= ENSP00000291582.5:p.Ala258=
ENST00000527919.5:n.1507C=
ENST00000530812.5:n.2524C=
NM_000383.3:c.774C= NP_000374.1:p.Ala258=
XM_011529551.1:c.774C= XP_011527853.1:p.Ala258=
NM_000383.4:c.774C= MANE Select NP_000374.1:p.Ala258=