Canonical Allele Identifier: CA393372458
Gene: ALPK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84839712G>A , CM000677.2:g.84839712G>A GRCh38
NC_000015.9:g.85382943G>A , CM000677.1:g.85382943G>A GRCh37
NC_000015.8:g.83183947G>A NCBI36
NG_054748.1:g.28082G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.433G>A MANE Select ENSP00000258888.6:p.Glu145Lys
ENST00000258888.5:c.1039G>A ENSP00000258888.5:p.Glu347Lys
NM_020778.4:c.1039G>A NP_065829.3:p.Glu347Lys
NM_020778.5:c.433G>A MANE Select NP_065829.4:p.Glu145Lys