Canonical Allele Identifier: CA2391569569

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44294483C= , CM000683.2:g.44294483C=	GRCh38
NC_000021.8:g.45714366C= , CM000683.1:g.45714366C=	GRCh37
NC_000021.7:g.44538794C=	NCBI36
NG_009556.1:g.13604C= , LRG_18:g.13604C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000291582.6:c.1483C= MANE Select	ENSP00000291582.5:p.Leu495=
ENST00000291582.5:c.1483C=	ENSP00000291582.5:p.Leu495=
ENST00000337909.5:n.944C=
ENST00000397994.8:n.862C=
ENST00000527919.5:n.2242C=
ENST00000530812.5:n.3230C=
NM_000383.3:c.1483C=	NP_000374.1:p.Leu495=
XM_011529551.1:c.1480C=	XP_011527853.1:p.Leu494=
NM_000383.4:c.1483C= MANE Select	NP_000374.1:p.Leu495=