Canonical Allele Identifier: CA10051707
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1337433
ClinVar RCV Id: RCV001820447 RCV002542624 RCV003968580 RCV004040986
dbSNP Id: rs140835367
ExAC: 21:45709680 G / A
gnomAD v2: 21-45709680-G-A
gnomAD v3: 21-44289797-G-A
gnomAD v4: 21-44289797-G-A
MyVariant Identifiers: chr21:g.45709680G>A (hg19) chr21:g.44289797G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289797G>A , CM000683.2:g.44289797G>A GRCh38
NC_000021.8:g.45709680G>A , CM000683.1:g.45709680G>A GRCh37
NC_000021.7:g.44534108G>A NCBI36
NG_009556.1:g.8918G>A , LRG_18:g.8918G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.793G>A MANE Select ENSP00000291582.5:p.Ala265Thr
ENST00000291582.5:c.793G>A ENSP00000291582.5:p.Ala265Thr
ENST00000527919.5:n.1526G>A
ENST00000530812.5:n.2543G>A
NM_000383.3:c.793G>A NP_000374.1:p.Ala265Thr
XM_011529551.1:c.793G>A XP_011527853.1:p.Ala265Thr
NM_000383.4:c.793G>A MANE Select NP_000374.1:p.Ala265Thr
Search 100 bp 5'
Search 100 bp 3'