Canonical Allele Identifier: CA2391566147

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44288396G= , CM000683.2:g.44288396G=	GRCh38
NC_000021.8:g.45708279G= , CM000683.1:g.45708279G=	GRCh37
NC_000021.7:g.44532707G=	NCBI36
NG_009556.1:g.7517G= , LRG_18:g.7517G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.590G= MANE Select	ENSP00000291582.5:p.Gly197=
ENST00000291582.5:c.590G=	ENSP00000291582.5:p.Gly197=
ENST00000527919.5:n.1134G=
ENST00000530812.5:n.1142G=
NM_000383.3:c.590G=	NP_000374.1:p.Gly197=
XM_011529551.1:c.590G=	XP_011527853.1:p.Gly197=
NM_000383.4:c.590G= MANE Select	NP_000374.1:p.Gly197=