Canonical Allele Identifier: CA2391566134

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44288371C= , CM000683.2:g.44288371C=	GRCh38
NC_000021.8:g.45708254C= , CM000683.1:g.45708254C=	GRCh37
NC_000021.7:g.44532682C=	NCBI36
NG_009556.1:g.7492C= , LRG_18:g.7492C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.565C= MANE Select	ENSP00000291582.5:p.Gln189=
ENST00000291582.5:c.565C=	ENSP00000291582.5:p.Gln189=
ENST00000527919.5:n.1109C=
ENST00000530812.5:n.1117C=
NM_000383.3:c.565C=	NP_000374.1:p.Gln189=
XM_011529551.1:c.565C=	XP_011527853.1:p.Gln189=
NM_000383.4:c.565C= MANE Select	NP_000374.1:p.Gln189=