Canonical Allele Identifier: CA393374400
Gene: ALPK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840374G>T , CM000677.2:g.84840374G>T GRCh38
NC_000015.9:g.85383605G>T , CM000677.1:g.85383605G>T GRCh37
NC_000015.8:g.83184609G>T NCBI36
NG_054748.1:g.28744G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258888.6:c.1095G>T MANE Select ENSP00000258888.6:p.Gln365His
ENST00000258888.5:c.1701G>T ENSP00000258888.5:p.Gln567His
NM_020778.4:c.1701G>T NP_065829.3:p.Gln567His
NM_020778.5:c.1095G>T MANE Select NP_065829.4:p.Gln365His