Canonical Allele Identifier: CA393374097
Gene: ALPK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840290A>T , CM000677.2:g.84840290A>T GRCh38
NC_000015.9:g.85383521A>T , CM000677.1:g.85383521A>T GRCh37
NC_000015.8:g.83184525A>T NCBI36
NG_054748.1:g.28660A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1011A>T MANE Select ENSP00000258888.6:p.Gln337His
ENST00000258888.5:c.1617A>T ENSP00000258888.5:p.Gln539His
NM_020778.4:c.1617A>T NP_065829.3:p.Gln539His
NM_020778.5:c.1011A>T MANE Select NP_065829.4:p.Gln337His