Canonical Allele Identifier: CA410424765
Gene: AIRE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290066C>A , CM000683.2:g.44290066C>A GRCh38
NC_000021.8:g.45709949C>A , CM000683.1:g.45709949C>A GRCh37
NC_000021.7:g.44534377C>A NCBI36
NG_009556.1:g.9187C>A , LRG_18:g.9187C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.877C>A MANE Select ENSP00000291582.5:p.Gln293Lys
ENST00000291582.5:c.877C>A ENSP00000291582.5:p.Gln293Lys
ENST00000527919.5:n.1610C>A
ENST00000530812.5:n.2627C>A
NM_000383.3:c.877C>A NP_000374.1:p.Gln293Lys
XM_011529551.1:c.877C>A XP_011527853.1:p.Gln293Lys
NM_000383.4:c.877C>A MANE Select NP_000374.1:p.Gln293Lys