Canonical Allele Identifier: CA410424371
Gene: AIRE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289692T>G , CM000683.2:g.44289692T>G GRCh38
NC_000021.8:g.45709575T>G , CM000683.1:g.45709575T>G GRCh37
NC_000021.7:g.44534003T>G NCBI36
NG_009556.1:g.8813T>G , LRG_18:g.8813T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.688T>G MANE Select ENSP00000291582.5:p.Phe230Val
ENST00000291582.5:c.688T>G ENSP00000291582.5:p.Phe230Val
ENST00000527919.5:n.1421T>G
ENST00000530812.5:n.2438T>G
NM_000383.3:c.688T>G NP_000374.1:p.Phe230Val
XM_011529551.1:c.688T>G XP_011527853.1:p.Phe230Val
NM_000383.4:c.688T>G MANE Select NP_000374.1:p.Phe230Val