Canonical Allele Identifier: CA2391566988

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44290024G= , CM000683.2:g.44290024G=	GRCh38
NC_000021.8:g.45709907G= , CM000683.1:g.45709907G=	GRCh37
NC_000021.7:g.44534335G=	NCBI36
NG_009556.1:g.9145G= , LRG_18:g.9145G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.835G= MANE Select	ENSP00000291582.5:p.Val279=
ENST00000291582.5:c.835G=	ENSP00000291582.5:p.Val279=
ENST00000527919.5:n.1568G=
ENST00000530812.5:n.2585G=
NM_000383.3:c.835G=	NP_000374.1:p.Val279=
XM_011529551.1:c.835G=	XP_011527853.1:p.Val279=
NM_000383.4:c.835G= MANE Select	NP_000374.1:p.Val279=