Canonical Allele Identifier: CA321789212
Gene: AIRE HGNC NCBI

Linked Data

dbSNP Id: rs980990538
gnomAD v4: 21-44289684-G-A
COSMIC: COSM2820607
MyVariant Identifiers: chr21:g.45709567G>A (hg19) chr21:g.44289684G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289684G>A , CM000683.2:g.44289684G>A GRCh38
NC_000021.8:g.45709567G>A , CM000683.1:g.45709567G>A GRCh37
NC_000021.7:g.44533995G>A NCBI36
NG_009556.1:g.8805G>A , LRG_18:g.8805G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.680G>A MANE Select ENSP00000291582.5:p.Gly227Asp
ENST00000291582.5:c.680G>A ENSP00000291582.5:p.Gly227Asp
ENST00000527919.5:n.1413G>A
ENST00000530812.5:n.2430G>A
NM_000383.3:c.680G>A NP_000374.1:p.Gly227Asp
XM_011529551.1:c.680G>A XP_011527853.1:p.Gly227Asp
NM_000383.4:c.680G>A MANE Select NP_000374.1:p.Gly227Asp
Search 100 bp 5'
Search 100 bp 3'