Canonical Allele Identifier: CA393374853
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1974481
ClinVar RCV Id: RCV002741416
dbSNP Id: rs1208810447

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840496G>A , CM000677.2:g.84840496G>A GRCh38
NC_000015.9:g.85383727G>A , CM000677.1:g.85383727G>A GRCh37
NC_000015.8:g.83184731G>A NCBI36
NG_054748.1:g.28866G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1217G>A MANE Select ENSP00000258888.6:p.Gly406Asp
ENST00000258888.5:c.1823G>A ENSP00000258888.5:p.Gly608Asp
NM_020778.4:c.1823G>A NP_065829.3:p.Gly608Asp
NM_020778.5:c.1217G>A MANE Select NP_065829.4:p.Gly406Asp