Canonical Allele Identifier: CA7709136
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1905640
ClinVar RCV Id: RCV002588836
dbSNP Id: rs774084724

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840454C>T , CM000677.2:g.84840454C>T GRCh38
NC_000015.9:g.85383685C>T , CM000677.1:g.85383685C>T GRCh37
NC_000015.8:g.83184689C>T NCBI36
NG_054748.1:g.28824C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1175C>T MANE Select ENSP00000258888.6:p.Ala392Val
ENST00000258888.5:c.1781C>T ENSP00000258888.5:p.Ala594Val
NM_020778.4:c.1781C>T NP_065829.3:p.Ala594Val
NM_020778.5:c.1175C>T MANE Select NP_065829.4:p.Ala392Val