Canonical Allele Identifier: CA10051695
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1412681
ClinVar RCV Id: RCV001923373
dbSNP Id: rs763487370
ExAC: 21:45709627 G / A
gnomAD v2: 21-45709627-G-A
gnomAD v3: 21-44289744-G-A
gnomAD v4: 21-44289744-G-A
COSMIC: COSM6446778
MyVariant Identifiers: chr21:g.45709627G>A (hg19) chr21:g.44289744G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289744G>A , CM000683.2:g.44289744G>A GRCh38
NC_000021.8:g.45709627G>A , CM000683.1:g.45709627G>A GRCh37
NC_000021.7:g.44534055G>A NCBI36
NG_009556.1:g.8865G>A , LRG_18:g.8865G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.740G>A MANE Select ENSP00000291582.5:p.Arg247His
ENST00000291582.5:c.740G>A ENSP00000291582.5:p.Arg247His
ENST00000527919.5:n.1473G>A
ENST00000530812.5:n.2490G>A
NM_000383.3:c.740G>A NP_000374.1:p.Arg247His
XM_011529551.1:c.740G>A XP_011527853.1:p.Arg247His
NM_000383.4:c.740G>A MANE Select NP_000374.1:p.Arg247His
Search 100 bp 5'
Search 100 bp 3'