Canonical Allele Identifier: CA393374391
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2010875
ClinVar RCV Id: RCV002834315
gnomAD v4: 15-84840372-C-A
MyVariant Identifiers: chr15:g.85383603C>A (hg19) chr15:g.84840372C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840372C>A , CM000677.2:g.84840372C>A GRCh38
NC_000015.9:g.85383603C>A , CM000677.1:g.85383603C>A GRCh37
NC_000015.8:g.83184607C>A NCBI36
NG_054748.1:g.28742C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258888.6:c.1093C>A MANE Select ENSP00000258888.6:p.Gln365Lys
ENST00000258888.5:c.1699C>A ENSP00000258888.5:p.Gln567Lys
NM_020778.4:c.1699C>A NP_065829.3:p.Gln567Lys
NM_020778.5:c.1093C>A MANE Select NP_065829.4:p.Gln365Lys
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