Canonical Allele Identifier: CA2391566828

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44289743C= , CM000683.2:g.44289743C=	GRCh38
NC_000021.8:g.45709626C= , CM000683.1:g.45709626C=	GRCh37
NC_000021.7:g.44534054C=	NCBI36
NG_009556.1:g.8864C= , LRG_18:g.8864C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.739C= MANE Select	ENSP00000291582.5:p.Arg247=
ENST00000291582.5:c.739C=	ENSP00000291582.5:p.Arg247=
ENST00000527919.5:n.1472C=
ENST00000530812.5:n.2489C=
NM_000383.3:c.739C=	NP_000374.1:p.Arg247=
XM_011529551.1:c.739C=	XP_011527853.1:p.Arg247=
NM_000383.4:c.739C= MANE Select	NP_000374.1:p.Arg247=