Canonical Allele Identifier: CA247061
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 198418
ClinVar RCV Id: RCV000179755 RCV002517757
dbSNP Id: rs778148534
ExAC: 21:45709913 G / A
gnomAD v2: 21-45709913-G-A
gnomAD v3: 21-44290030-G-A
gnomAD v4: 21-44290030-G-A
COSMIC: COSM6028762
MyVariant Identifiers: chr21:g.45709913G>A (hg19) chr21:g.44290030G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44290030G>A , CM000683.2:g.44290030G>A GRCh38
NC_000021.8:g.45709913G>A , CM000683.1:g.45709913G>A GRCh37
NC_000021.7:g.44534341G>A NCBI36
NG_009556.1:g.9151G>A , LRG_18:g.9151G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.841G>A MANE Select ENSP00000291582.5:p.Ala281Thr
ENST00000291582.5:c.841G>A ENSP00000291582.5:p.Ala281Thr
ENST00000527919.5:n.1574G>A
ENST00000530812.5:n.2591G>A
NM_000383.3:c.841G>A NP_000374.1:p.Ala281Thr
XM_011529551.1:c.841G>A XP_011527853.1:p.Ala281Thr
NM_000383.4:c.841G>A MANE Select NP_000374.1:p.Ala281Thr
Search 100 bp 5'
Search 100 bp 3'