Canonical Allele Identifier: CA393374988
Gene: ALPK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840522T>A , CM000677.2:g.84840522T>A GRCh38
NC_000015.9:g.85383753T>A , CM000677.1:g.85383753T>A GRCh37
NC_000015.8:g.83184757T>A NCBI36
NG_054748.1:g.28892T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1243T>A MANE Select ENSP00000258888.6:p.Leu415Met
ENST00000258888.5:c.1849T>A ENSP00000258888.5:p.Leu617Met
NM_020778.4:c.1849T>A NP_065829.3:p.Leu617Met
NM_020778.5:c.1243T>A MANE Select NP_065829.4:p.Leu415Met