Canonical Allele Identifier: CA393375278
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1311060
ClinVar RCV Id: RCV001758569 RCV002414316
dbSNP Id: rs2141557079
gnomAD v4: 15-84840567-G-T
MyVariant Identifiers: chr15:g.85383798G>T (hg19) chr15:g.84840567G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840567G>T , CM000677.2:g.84840567G>T GRCh38
NC_000015.9:g.85383798G>T , CM000677.1:g.85383798G>T GRCh37
NC_000015.8:g.83184802G>T NCBI36
NG_054748.1:g.28937G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1288G>T MANE Select ENSP00000258888.6:p.Gly430Trp
ENST00000258888.5:c.1894G>T ENSP00000258888.5:p.Gly632Trp
NM_020778.4:c.1894G>T NP_065829.3:p.Gly632Trp
NM_020778.5:c.1288G>T MANE Select NP_065829.4:p.Gly430Trp
Search 100 bp 5'
Search 100 bp 3'