Canonical Allele Identifier: CA10051536
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 458618
ClinVar RCV Id: RCV000540073 RCV001541814
dbSNP Id: rs74162060
ExAC: 21:45706901 G / A
gnomAD v2: 21-45706901-G-A
gnomAD v3: 21-44287018-G-A
gnomAD v4: 21-44287018-G-A
MyVariant Identifiers: chr21:g.45706901G>A (hg19) chr21:g.44287018G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44287018G>A , CM000683.2:g.44287018G>A GRCh38
NC_000021.8:g.45706901G>A , CM000683.1:g.45706901G>A GRCh37
NC_000021.7:g.44531329G>A NCBI36
NG_009556.1:g.6139G>A , LRG_18:g.6139G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291582.6:c.348G>A MANE Select ENSP00000291582.5:p.Pro116=
ENST00000291582.5:c.348G>A ENSP00000291582.5:p.Pro116=
ENST00000527919.5:n.509G>A
ENST00000530812.5:n.517G>A
NM_000383.3:c.348G>A NP_000374.1:p.Pro116=
XM_011529551.1:c.348G>A XP_011527853.1:p.Pro116=
NM_000383.4:c.348G>A MANE Select NP_000374.1:p.Pro116=
Search 100 bp 5'
Search 100 bp 3'