Canonical Allele Identifier: CA393372486
Gene: ALPK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84839724A>C , CM000677.2:g.84839724A>C GRCh38
NC_000015.9:g.85382955A>C , CM000677.1:g.85382955A>C GRCh37
NC_000015.8:g.83183959A>C NCBI36
NG_054748.1:g.28094A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.445A>C MANE Select ENSP00000258888.6:p.Ile149Leu
ENST00000258888.5:c.1051A>C ENSP00000258888.5:p.Ile351Leu
NM_020778.4:c.1051A>C NP_065829.3:p.Ile351Leu
NM_020778.5:c.445A>C MANE Select NP_065829.4:p.Ile149Leu