Canonical Allele Identifier: CA2391566343
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288801C= , CM000683.2:g.44288801C= GRCh38
NC_000021.8:g.45708684C= , CM000683.1:g.45708684C= GRCh37
NC_000021.7:g.44533112C= NCBI36
NG_009556.1:g.7922C= , LRG_18:g.7922C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.652+343C= MANE Select ENSP00000291582.5:n.652+343C=
ENST00000291582.5:c.652+343C= ENSP00000291582.5:n.652+343C=
ENST00000527919.5:n.1196+343C=
ENST00000530812.5:n.1547C=
NM_000383.3:c.652+343C= NP_000374.1:n.652+343C=
XM_011529551.1:c.652+343C= XP_011527853.1:n.652+343C=
NM_000383.4:c.652+343C= MANE Select NP_000374.1:n.652+343C=