Canonical Allele Identifier: CA2391566824
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289736C= , CM000683.2:g.44289736C= GRCh38
NC_000021.8:g.45709619C= , CM000683.1:g.45709619C= GRCh37
NC_000021.7:g.44534047C= NCBI36
NG_009556.1:g.8857C= , LRG_18:g.8857C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.732C= MANE Select ENSP00000291582.5:p.Asn244=
ENST00000291582.5:c.732C= ENSP00000291582.5:p.Asn244=
ENST00000527919.5:n.1465C=
ENST00000530812.5:n.2482C=
NM_000383.3:c.732C= NP_000374.1:p.Asn244=
XM_011529551.1:c.732C= XP_011527853.1:p.Asn244=
NM_000383.4:c.732C= MANE Select NP_000374.1:p.Asn244=