Canonical Allele Identifier: CA512490984
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1095727
ClinVar RCV Id: RCV001416745
dbSNP Id: rs1417017303
gnomAD v2: 21-45709628-C-A
gnomAD v4: 21-44289745-C-A
MyVariant Identifiers: chr21:g.45709628C>A (hg19) chr21:g.44289745C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289745C>A , CM000683.2:g.44289745C>A GRCh38
NC_000021.8:g.45709628C>A , CM000683.1:g.45709628C>A GRCh37
NC_000021.7:g.44534056C>A NCBI36
NG_009556.1:g.8866C>A , LRG_18:g.8866C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.741C>A MANE Select ENSP00000291582.5:p.Arg247=
ENST00000291582.5:c.741C>A ENSP00000291582.5:p.Arg247=
ENST00000527919.5:n.1474C>A
ENST00000530812.5:n.2491C>A
NM_000383.3:c.741C>A NP_000374.1:p.Arg247=
XM_011529551.1:c.741C>A XP_011527853.1:p.Arg247=
NM_000383.4:c.741C>A MANE Select NP_000374.1:p.Arg247=
Search 100 bp 5'
Search 100 bp 3'