Canonical Allele Identifier: CA512489986
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 2816746
ClinVar RCV Id: RCV003637155
dbSNP Id: rs2040483990
MyVariant Identifiers: chr21:g.45706442G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286559G>A , CM000683.2:g.44286559G>A GRCh38
NC_000021.8:g.45706442G>A , CM000683.1:g.45706442G>A GRCh37
NC_000021.7:g.44530870G>A NCBI36
NG_009556.1:g.5680G>A , LRG_18:g.5680G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.135G>A MANE Select ENSP00000291582.5:p.Glu45=
ENST00000291582.5:c.135G>A ENSP00000291582.5:p.Glu45=
ENST00000527919.5:n.296G>A
ENST00000530812.5:n.304G>A
NM_000383.3:c.135G>A NP_000374.1:p.Glu45=
XM_011529551.1:c.135G>A XP_011527853.1:p.Glu45=
NM_000383.4:c.135G>A MANE Select NP_000374.1:p.Glu45=
Search 100 bp 5'
Search 100 bp 3'