Canonical Allele Identifier: CA393373958
Gene: ALPK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840254A>C , CM000677.2:g.84840254A>C GRCh38
NC_000015.9:g.85383485A>C , CM000677.1:g.85383485A>C GRCh37
NC_000015.8:g.83184489A>C NCBI36
NG_054748.1:g.28624A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.975A>C MANE Select ENSP00000258888.6:p.Gln325His
ENST00000258888.5:c.1581A>C ENSP00000258888.5:p.Gln527His
NM_020778.4:c.1581A>C NP_065829.3:p.Gln527His
NM_020778.5:c.975A>C MANE Select NP_065829.4:p.Gln325His