Canonical Allele Identifier: CA410424551
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 990751
ClinVar RCV Id: RCV001278842
dbSNP Id: rs1388835954

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289777C>G , CM000683.2:g.44289777C>G GRCh38
NC_000021.8:g.45709660C>G , CM000683.1:g.45709660C>G GRCh37
NC_000021.7:g.44534088C>G NCBI36
NG_009556.1:g.8898C>G , LRG_18:g.8898C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.773C>G MANE Select ENSP00000291582.5:p.Ala258Gly
ENST00000291582.5:c.773C>G ENSP00000291582.5:p.Ala258Gly
ENST00000527919.5:n.1506C>G
ENST00000530812.5:n.2523C>G
NM_000383.3:c.773C>G NP_000374.1:p.Ala258Gly
XM_011529551.1:c.773C>G XP_011527853.1:p.Ala258Gly
NM_000383.4:c.773C>G MANE Select NP_000374.1:p.Ala258Gly