Canonical Allele Identifier: CA393374967
Gene: ALPK3 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1237T>C MANE Select ENSP00000258888.6:p.Phe413Leu
ENST00000258888.5:c.1843T>C ENSP00000258888.5:p.Phe615Leu
NM_020778.4:c.1843T>C NP_065829.3:p.Phe615Leu
NM_020778.5:c.1237T>C MANE Select NP_065829.4:p.Phe413Leu