Canonical Allele Identifier: CA410424427
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 3019666
ClinVar RCV Id: RCV003874777
dbSNP Id: rs2040516836

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289717A>C , CM000683.2:g.44289717A>C GRCh38
NC_000021.8:g.45709600A>C , CM000683.1:g.45709600A>C GRCh37
NC_000021.7:g.44534028A>C NCBI36
NG_009556.1:g.8838A>C , LRG_18:g.8838A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.713A>C MANE Select ENSP00000291582.5:p.Asp238Ala
ENST00000291582.5:c.713A>C ENSP00000291582.5:p.Asp238Ala
ENST00000527919.5:n.1446A>C
ENST00000530812.5:n.2463A>C
NM_000383.3:c.713A>C NP_000374.1:p.Asp238Ala
XM_011529551.1:c.713A>C XP_011527853.1:p.Asp238Ala
NM_000383.4:c.713A>C MANE Select NP_000374.1:p.Asp238Ala