Canonical Allele Identifier: CA410424482
Gene: AIRE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289741C>A , CM000683.2:g.44289741C>A GRCh38
NC_000021.8:g.45709624C>A , CM000683.1:g.45709624C>A GRCh37
NC_000021.7:g.44534052C>A NCBI36
NG_009556.1:g.8862C>A , LRG_18:g.8862C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.737C>A MANE Select ENSP00000291582.5:p.Ala246Asp
ENST00000291582.5:c.737C>A ENSP00000291582.5:p.Ala246Asp
ENST00000527919.5:n.1470C>A
ENST00000530812.5:n.2487C>A
NM_000383.3:c.737C>A NP_000374.1:p.Ala246Asp
XM_011529551.1:c.737C>A XP_011527853.1:p.Ala246Asp
NM_000383.4:c.737C>A MANE Select NP_000374.1:p.Ala246Asp