Canonical Allele Identifier: CA2391566811

Gene: AIRE

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44289710T= , CM000683.2:g.44289710T=	GRCh38
NC_000021.8:g.45709593T= , CM000683.1:g.45709593T=	GRCh37
NC_000021.7:g.44534021T=	NCBI36
NG_009556.1:g.8831T= , LRG_18:g.8831T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.706T= MANE Select	ENSP00000291582.5:p.Phe236=
ENST00000291582.5:c.706T=	ENSP00000291582.5:p.Phe236=
ENST00000527919.5:n.1439T=
ENST00000530812.5:n.2456T=
NM_000383.3:c.706T=	NP_000374.1:p.Phe236=
XM_011529551.1:c.706T=	XP_011527853.1:p.Phe236=
NM_000383.4:c.706T= MANE Select	NP_000374.1:p.Phe236=