Canonical Allele Identifier: CA230862
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 128334
ClinVar RCV Id: RCV000238916 RCV003430667 RCV001081188
dbSNP Id: rs74162061
ExAC: 21:45708284 G / A
gnomAD v2: 21-45708284-G-A
gnomAD v3: 21-44288401-G-A
gnomAD v4: 21-44288401-G-A
MyVariant Identifiers: chr21:g.45708284G>A (hg19) chr21:g.44288401G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288401G>A , CM000683.2:g.44288401G>A GRCh38
NC_000021.8:g.45708284G>A , CM000683.1:g.45708284G>A GRCh37
NC_000021.7:g.44532712G>A NCBI36
NG_009556.1:g.7522G>A , LRG_18:g.7522G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.595G>A MANE Select ENSP00000291582.5:p.Val199Ile
ENST00000291582.5:c.595G>A ENSP00000291582.5:p.Val199Ile
ENST00000527919.5:n.1139G>A
ENST00000530812.5:n.1147G>A
NM_000383.3:c.595G>A NP_000374.1:p.Val199Ile
XM_011529551.1:c.595G>A XP_011527853.1:p.Val199Ile
NM_000383.4:c.595G>A MANE Select NP_000374.1:p.Val199Ile
Search 100 bp 5'
Search 100 bp 3'