Canonical Allele Identifier: CA2391566806
Gene: AIRE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289697C= , CM000683.2:g.44289697C= GRCh38
NC_000021.8:g.45709580C= , CM000683.1:g.45709580C= GRCh37
NC_000021.7:g.44534008C= NCBI36
NG_009556.1:g.8818C= , LRG_18:g.8818C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.693C= MANE Select ENSP00000291582.5:p.Tyr231=
ENST00000291582.5:c.693C= ENSP00000291582.5:p.Tyr231=
ENST00000527919.5:n.1426C=
ENST00000530812.5:n.2443C=
NM_000383.3:c.693C= NP_000374.1:p.Tyr231=
XM_011529551.1:c.693C= XP_011527853.1:p.Tyr231=
NM_000383.4:c.693C= MANE Select NP_000374.1:p.Tyr231=