Canonical Allele Identifier: CA7708805
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 386372
ClinVar RCV Id: RCV000435059 RCV001704324 RCV002411355 RCV004533065
dbSNP Id: rs115389253
ExAC: 15:85360252 C / G
gnomAD v2: 15-85360252-C-G
gnomAD v3: 15-84817021-C-G
gnomAD v4: 15-84817021-C-G
MyVariant Identifiers: chr15:g.85360252C>G (hg19) chr15:g.84817021C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84817021C>G , CM000677.2:g.84817021C>G GRCh38
NC_000015.9:g.85360252C>G , CM000677.1:g.85360252C>G GRCh37
NC_000015.8:g.83161256C>G NCBI36
NG_054748.1:g.5391C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.5:c.175C>G ENSP00000258888.5:p.Arg59Gly
NM_020778.4:c.175C>G NP_065829.3:p.Arg59Gly
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