Canonical Allele Identifier: CA393374974
Gene: ALPK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840517T>G , CM000677.2:g.84840517T>G GRCh38
NC_000015.9:g.85383748T>G , CM000677.1:g.85383748T>G GRCh37
NC_000015.8:g.83184752T>G NCBI36
NG_054748.1:g.28887T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1238T>G MANE Select ENSP00000258888.6:p.Phe413Cys
ENST00000258888.5:c.1844T>G ENSP00000258888.5:p.Phe615Cys
NM_020778.4:c.1844T>G NP_065829.3:p.Phe615Cys
NM_020778.5:c.1238T>G MANE Select NP_065829.4:p.Phe413Cys