Canonical Allele Identifier: CA512490532
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1531930
ClinVar RCV Id: RCV002106838
dbSNP Id: rs2146376946
gnomAD v4: 21-44287572-G-A
MyVariant Identifiers: chr21:g.45707455G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287572G>A , CM000683.2:g.44287572G>A GRCh38
NC_000021.8:g.45707455G>A , CM000683.1:g.45707455G>A GRCh37
NC_000021.7:g.44531883G>A NCBI36
NG_009556.1:g.6693G>A , LRG_18:g.6693G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.519G>A MANE Select ENSP00000291582.5:p.Gln173=
ENST00000291582.5:c.519G>A ENSP00000291582.5:p.Gln173=
ENST00000527919.5:n.1063G>A
ENST00000530812.5:n.1071G>A
NM_000383.3:c.519G>A NP_000374.1:p.Gln173=
XM_011529551.1:c.519G>A XP_011527853.1:p.Gln173=
NM_000383.4:c.519G>A MANE Select NP_000374.1:p.Gln173=
Search 100 bp 5'
Search 100 bp 3'