Canonical Allele Identifier: CA393374116
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1776633
ClinVar RCV Id: RCV002401091
dbSNP Id: rs1292786311
gnomAD v2: 15-85383526-G-A
gnomAD v4: 15-84840295-G-A
COSMIC: COSM4057498 COSM4057499
MyVariant Identifiers: chr15:g.85383526G>A (hg19) chr15:g.84840295G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840295G>A , CM000677.2:g.84840295G>A GRCh38
NC_000015.9:g.85383526G>A , CM000677.1:g.85383526G>A GRCh37
NC_000015.8:g.83184530G>A NCBI36
NG_054748.1:g.28665G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1016G>A MANE Select ENSP00000258888.6:p.Arg339His
ENST00000258888.5:c.1622G>A ENSP00000258888.5:p.Arg541His
NM_020778.4:c.1622G>A NP_065829.3:p.Arg541His
NM_020778.5:c.1016G>A MANE Select NP_065829.4:p.Arg339His
Search 100 bp 5'
Search 100 bp 3'