Canonical Allele Identifier: CA2391566823

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44289731A= , CM000683.2:g.44289731A=	GRCh38
NC_000021.8:g.45709614A= , CM000683.1:g.45709614A=	GRCh37
NC_000021.7:g.44534042A=	NCBI36
NG_009556.1:g.8852A= , LRG_18:g.8852A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.727A= MANE Select	ENSP00000291582.5:p.Lys243=
ENST00000291582.5:c.727A=	ENSP00000291582.5:p.Lys243=
ENST00000527919.5:n.1460A=
ENST00000530812.5:n.2477A=
NM_000383.3:c.727A=	NP_000374.1:p.Lys243=
XM_011529551.1:c.727A=	XP_011527853.1:p.Lys243=
NM_000383.4:c.727A= MANE Select	NP_000374.1:p.Lys243=