Canonical Allele Identifier: CA10051507
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1096406
ClinVar RCV Id: RCV001417647
dbSNP Id: rs765892829
ExAC: 21:45706583 G / A
gnomAD v2: 21-45706583-G-A
gnomAD v3: 21-44286700-G-A
gnomAD v4: 21-44286700-G-A
MyVariant Identifiers: chr21:g.45706583G>A (hg19) chr21:g.44286700G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44286700G>A , CM000683.2:g.44286700G>A GRCh38
NC_000021.8:g.45706583G>A , CM000683.1:g.45706583G>A GRCh37
NC_000021.7:g.44531011G>A NCBI36
NG_009556.1:g.5821G>A , LRG_18:g.5821G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.276G>A MANE Select ENSP00000291582.5:p.Arg92=
ENST00000291582.5:c.276G>A ENSP00000291582.5:p.Arg92=
ENST00000527919.5:n.437G>A
ENST00000530812.5:n.445G>A
NM_000383.3:c.276G>A NP_000374.1:p.Arg92=
XM_011529551.1:c.276G>A XP_011527853.1:p.Arg92=
NM_000383.4:c.276G>A MANE Select NP_000374.1:p.Arg92=
Search 100 bp 5'
Search 100 bp 3'