Canonical Allele Identifier: CA393374039
Gene: ALPK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840276G>T , CM000677.2:g.84840276G>T GRCh38
NC_000015.9:g.85383507G>T , CM000677.1:g.85383507G>T GRCh37
NC_000015.8:g.83184511G>T NCBI36
NG_054748.1:g.28646G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258888.6:c.997G>T MANE Select ENSP00000258888.6:p.Glu333Ter
ENST00000258888.5:c.1603G>T ENSP00000258888.5:p.Glu535Ter
NM_020778.4:c.1603G>T NP_065829.3:p.Glu535Ter
NM_020778.5:c.997G>T MANE Select NP_065829.4:p.Glu333Ter