Canonical Allele Identifier: CA393372773
Gene: ALPK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84839808A>G , CM000677.2:g.84839808A>G GRCh38
NC_000015.9:g.85383039A>G , CM000677.1:g.85383039A>G GRCh37
NC_000015.8:g.83184043A>G NCBI36
NG_054748.1:g.28178A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000258888.6:c.529A>G MANE Select ENSP00000258888.6:p.Ile177Val
ENST00000258888.5:c.1135A>G ENSP00000258888.5:p.Ile379Val
NM_020778.4:c.1135A>G NP_065829.3:p.Ile379Val
NM_020778.5:c.529A>G MANE Select NP_065829.4:p.Ile177Val