Canonical Allele Identifier: CA393374938
Gene: ALPK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840511T>C , CM000677.2:g.84840511T>C GRCh38
NC_000015.9:g.85383742T>C , CM000677.1:g.85383742T>C GRCh37
NC_000015.8:g.83184746T>C NCBI36
NG_054748.1:g.28881T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1232T>C MANE Select ENSP00000258888.6:p.Val411Ala
ENST00000258888.5:c.1838T>C ENSP00000258888.5:p.Val613Ala
NM_020778.4:c.1838T>C NP_065829.3:p.Val613Ala
NM_020778.5:c.1232T>C MANE Select NP_065829.4:p.Val411Ala