Canonical Allele Identifier: CA393374971
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1478120
ClinVar RCV Id: RCV001974038
dbSNP Id: rs1596150023

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840516T>G , CM000677.2:g.84840516T>G GRCh38
NC_000015.9:g.85383747T>G , CM000677.1:g.85383747T>G GRCh37
NC_000015.8:g.83184751T>G NCBI36
NG_054748.1:g.28886T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1237T>G MANE Select ENSP00000258888.6:p.Phe413Val
ENST00000258888.5:c.1843T>G ENSP00000258888.5:p.Phe615Val
NM_020778.4:c.1843T>G NP_065829.3:p.Phe615Val
NM_020778.5:c.1237T>G MANE Select NP_065829.4:p.Phe413Val