Canonical Allele Identifier: CA7709160
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1404953
dbSNP Id: rs754238381

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840583A>G , CM000677.2:g.84840583A>G GRCh38
NC_000015.9:g.85383814A>G , CM000677.1:g.85383814A>G GRCh37
NC_000015.8:g.83184818A>G NCBI36
NG_054748.1:g.28953A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1304A>G MANE Select ENSP00000258888.6:p.Gln435Arg
ENST00000258888.5:c.1910A>G ENSP00000258888.5:p.Gln637Arg
NM_020778.4:c.1910A>G NP_065829.3:p.Gln637Arg
NM_020778.5:c.1304A>G MANE Select NP_065829.4:p.Gln435Arg