Canonical Allele Identifier: CA393372853
Gene: ALPK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84839826G>A , CM000677.2:g.84839826G>A GRCh38
NC_000015.9:g.85383057G>A , CM000677.1:g.85383057G>A GRCh37
NC_000015.8:g.83184061G>A NCBI36
NG_054748.1:g.28196G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.547G>A MANE Select ENSP00000258888.6:p.Ala183Thr
ENST00000258888.5:c.1153G>A ENSP00000258888.5:p.Ala385Thr
NM_020778.4:c.1153G>A NP_065829.3:p.Ala385Thr
NM_020778.5:c.547G>A MANE Select NP_065829.4:p.Ala183Thr