Canonical Allele Identifier: CA393374804
Gene: ALPK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840487C>A , CM000677.2:g.84840487C>A GRCh38
NC_000015.9:g.85383718C>A , CM000677.1:g.85383718C>A GRCh37
NC_000015.8:g.83184722C>A NCBI36
NG_054748.1:g.28857C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1208C>A MANE Select ENSP00000258888.6:p.Pro403His
ENST00000258888.5:c.1814C>A ENSP00000258888.5:p.Pro605His
NM_020778.4:c.1814C>A NP_065829.3:p.Pro605His
NM_020778.5:c.1208C>A MANE Select NP_065829.4:p.Pro403His