Canonical Allele Identifier: CA512490983

Gene: AIRE

Linked Data

• MyVariant Identifiers: chr21:g.45709628C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44289745C>G , CM000683.2:g.44289745C>G	GRCh38
NC_000021.8:g.45709628C>G , CM000683.1:g.45709628C>G	GRCh37
NC_000021.7:g.44534056C>G	NCBI36
NG_009556.1:g.8866C>G , LRG_18:g.8866C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291582.6:c.741C>G MANE Select	ENSP00000291582.5:p.Arg247=
ENST00000291582.5:c.741C>G	ENSP00000291582.5:p.Arg247=
ENST00000527919.5:n.1474C>G
ENST00000530812.5:n.2491C>G
NM_000383.3:c.741C>G	NP_000374.1:p.Arg247=
XM_011529551.1:c.741C>G	XP_011527853.1:p.Arg247=
NM_000383.4:c.741C>G MANE Select	NP_000374.1:p.Arg247=