Canonical Allele Identifier: CA2391567534

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44291163G= , CM000683.2:g.44291163G=	GRCh38
NC_000021.8:g.45711046G= , CM000683.1:g.45711046G=	GRCh37
NC_000021.7:g.44535474G=	NCBI36
NG_009556.1:g.10284G= , LRG_18:g.10284G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.948G= MANE Select	ENSP00000291582.5:p.Arg316=
ENST00000291582.5:c.948G=	ENSP00000291582.5:p.Arg316=
ENST00000337909.5:n.409G=
ENST00000397994.8:n.409G=
ENST00000527919.5:n.1678G=
ENST00000530812.5:n.2695G=
NM_000383.3:c.948G=	NP_000374.1:p.Arg316=
XM_011529551.1:c.945G=	XP_011527853.1:p.Arg315=
NM_000383.4:c.948G= MANE Select	NP_000374.1:p.Arg316=