Canonical Allele Identifier: CA410424501
Gene: AIRE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289751C>A , CM000683.2:g.44289751C>A GRCh38
NC_000021.8:g.45709634C>A , CM000683.1:g.45709634C>A GRCh37
NC_000021.7:g.44534062C>A NCBI36
NG_009556.1:g.8872C>A , LRG_18:g.8872C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.747C>A MANE Select ENSP00000291582.5:p.Ser249Arg
ENST00000291582.5:c.747C>A ENSP00000291582.5:p.Ser249Arg
ENST00000527919.5:n.1480C>A
ENST00000530812.5:n.2497C>A
NM_000383.3:c.747C>A NP_000374.1:p.Ser249Arg
XM_011529551.1:c.747C>A XP_011527853.1:p.Ser249Arg
NM_000383.4:c.747C>A MANE Select NP_000374.1:p.Ser249Arg