Canonical Allele Identifier: CA410424434
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1057385
ClinVar RCV Id: RCV001366354
dbSNP Id: rs2146379236
gnomAD v4: 21-44289720-C-A
MyVariant Identifiers: chr21:g.45709603C>A (hg19) chr21:g.44289720C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289720C>A , CM000683.2:g.44289720C>A GRCh38
NC_000021.8:g.45709603C>A , CM000683.1:g.45709603C>A GRCh37
NC_000021.7:g.44534031C>A NCBI36
NG_009556.1:g.8841C>A , LRG_18:g.8841C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.716C>A MANE Select ENSP00000291582.5:p.Ser239Tyr
ENST00000291582.5:c.716C>A ENSP00000291582.5:p.Ser239Tyr
ENST00000527919.5:n.1449C>A
ENST00000530812.5:n.2466C>A
NM_000383.3:c.716C>A NP_000374.1:p.Ser239Tyr
XM_011529551.1:c.716C>A XP_011527853.1:p.Ser239Tyr
NM_000383.4:c.716C>A MANE Select NP_000374.1:p.Ser239Tyr
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