Canonical Allele Identifier: CA512490988
Gene: AIRE HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45709640C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289757C>A , CM000683.2:g.44289757C>A GRCh38
NC_000021.8:g.45709640C>A , CM000683.1:g.45709640C>A GRCh37
NC_000021.7:g.44534068C>A NCBI36
NG_009556.1:g.8878C>A , LRG_18:g.8878C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.753C>A MANE Select ENSP00000291582.5:p.Gly251=
ENST00000291582.5:c.753C>A ENSP00000291582.5:p.Gly251=
ENST00000527919.5:n.1486C>A
ENST00000530812.5:n.2503C>A
NM_000383.3:c.753C>A NP_000374.1:p.Gly251=
XM_011529551.1:c.753C>A XP_011527853.1:p.Gly251=
NM_000383.4:c.753C>A MANE Select NP_000374.1:p.Gly251=
Search 100 bp 5'
Search 100 bp 3'