Canonical Allele Identifier: CA393373971
Gene: ALPK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840258C>G , CM000677.2:g.84840258C>G GRCh38
NC_000015.9:g.85383489C>G , CM000677.1:g.85383489C>G GRCh37
NC_000015.8:g.83184493C>G NCBI36
NG_054748.1:g.28628C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.979C>G MANE Select ENSP00000258888.6:p.Leu327Val
ENST00000258888.5:c.1585C>G ENSP00000258888.5:p.Leu529Val
NM_020778.4:c.1585C>G NP_065829.3:p.Leu529Val
NM_020778.5:c.979C>G MANE Select NP_065829.4:p.Leu327Val