Canonical Allele Identifier: CA393374074
Gene: ALPK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840283C>T , CM000677.2:g.84840283C>T GRCh38
NC_000015.9:g.85383514C>T , CM000677.1:g.85383514C>T GRCh37
NC_000015.8:g.83184518C>T NCBI36
NG_054748.1:g.28653C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258888.6:c.1004C>T MANE Select ENSP00000258888.6:p.Ala335Val
ENST00000258888.5:c.1610C>T ENSP00000258888.5:p.Ala537Val
NM_020778.4:c.1610C>T NP_065829.3:p.Ala537Val
NM_020778.5:c.1004C>T MANE Select NP_065829.4:p.Ala335Val