Canonical Allele Identifier: CA10051640
Gene: AIRE HGNC NCBI

Linked Data

ClinVar Variation Id: 1384246
ClinVar RCV Id: RCV001895848
dbSNP Id: rs200359179
ExAC: 21:45708297 G / A
gnomAD v2: 21-45708297-G-A
gnomAD v3: 21-44288414-G-A
gnomAD v4: 21-44288414-G-A
COSMIC: COSM350272
MyVariant Identifiers: chr21:g.45708297G>A (hg19) chr21:g.44288414G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44288414G>A , CM000683.2:g.44288414G>A GRCh38
NC_000021.8:g.45708297G>A , CM000683.1:g.45708297G>A GRCh37
NC_000021.7:g.44532725G>A NCBI36
NG_009556.1:g.7535G>A , LRG_18:g.7535G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.608G>A MANE Select ENSP00000291582.5:p.Arg203Gln
ENST00000291582.5:c.608G>A ENSP00000291582.5:p.Arg203Gln
ENST00000527919.5:n.1152G>A
ENST00000530812.5:n.1160G>A
NM_000383.3:c.608G>A NP_000374.1:p.Arg203Gln
XM_011529551.1:c.608G>A XP_011527853.1:p.Arg203Gln
NM_000383.4:c.608G>A MANE Select NP_000374.1:p.Arg203Gln
Search 100 bp 5'
Search 100 bp 3'