Canonical Allele Identifier: CA512490976

Gene: AIRE

Linked Data

• ClinVar Variation Id: 2023794
• ClinVar RCV Id: RCV002875939
• MyVariant Identifiers: chr21:g.45709616G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44289733G>A , CM000683.2:g.44289733G>A	GRCh38
NC_000021.8:g.45709616G>A , CM000683.1:g.45709616G>A	GRCh37
NC_000021.7:g.44534044G>A	NCBI36
NG_009556.1:g.8854G>A , LRG_18:g.8854G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.729G>A MANE Select	ENSP00000291582.5:p.Lys243=
ENST00000291582.5:c.729G>A	ENSP00000291582.5:p.Lys243=
ENST00000527919.5:n.1462G>A
ENST00000530812.5:n.2479G>A
NM_000383.3:c.729G>A	NP_000374.1:p.Lys243=
XM_011529551.1:c.729G>A	XP_011527853.1:p.Lys243=
NM_000383.4:c.729G>A MANE Select	NP_000374.1:p.Lys243=