Canonical Allele Identifier: CA2391568137

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44292317C= , CM000683.2:g.44292317C=	GRCh38
NC_000021.8:g.45712200C= , CM000683.1:g.45712200C=	GRCh37
NC_000021.7:g.44536628C=	NCBI36
NG_009556.1:g.11438C= , LRG_18:g.11438C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.1011C= MANE Select	ENSP00000291582.5:p.Cys337=
ENST00000291582.5:c.1011C=	ENSP00000291582.5:p.Cys337=
ENST00000337909.5:n.472C=
ENST00000397994.8:n.472C=
ENST00000527919.5:n.1741C=
ENST00000530812.5:n.2758C=
NM_000383.3:c.1011C=	NP_000374.1:p.Cys337=
XM_011529551.1:c.1008C=	XP_011527853.1:p.Cys336=
NM_000383.4:c.1011C= MANE Select	NP_000374.1:p.Cys337=