Canonical Allele Identifier: CA393374038
Gene: ALPK3 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000258888.6:c.997G>C MANE Select ENSP00000258888.6:p.Glu333Gln
ENST00000258888.5:c.1603G>C ENSP00000258888.5:p.Glu535Gln
NM_020778.4:c.1603G>C NP_065829.3:p.Glu535Gln
NM_020778.5:c.997G>C MANE Select NP_065829.4:p.Glu333Gln