Canonical Allele Identifier: CA410424257
Gene: AIRE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288444A>G , CM000683.2:g.44288444A>G GRCh38
NC_000021.8:g.45708327A>G , CM000683.1:g.45708327A>G GRCh37
NC_000021.7:g.44532755A>G NCBI36
NG_009556.1:g.7565A>G , LRG_18:g.7565A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.638A>G MANE Select ENSP00000291582.5:p.Gln213Arg
ENST00000291582.5:c.638A>G ENSP00000291582.5:p.Gln213Arg
ENST00000527919.5:n.1182A>G
ENST00000530812.5:n.1190A>G
NM_000383.3:c.638A>G NP_000374.1:p.Gln213Arg
XM_011529551.1:c.638A>G XP_011527853.1:p.Gln213Arg
NM_000383.4:c.638A>G MANE Select NP_000374.1:p.Gln213Arg