Canonical Allele Identifier: CA393374252
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1500067
ClinVar RCV Id: RCV002013248
dbSNP Id: rs374922996
MyVariant Identifiers: chr15:g.85383561G>C (hg19) chr15:g.84840330G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840330G>C , CM000677.2:g.84840330G>C GRCh38
NC_000015.9:g.85383561G>C , CM000677.1:g.85383561G>C GRCh37
NC_000015.8:g.83184565G>C NCBI36
NG_054748.1:g.28700G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1051G>C MANE Select ENSP00000258888.6:p.Glu351Gln
ENST00000258888.5:c.1657G>C ENSP00000258888.5:p.Glu553Gln
NM_020778.4:c.1657G>C NP_065829.3:p.Glu553Gln
NM_020778.5:c.1051G>C MANE Select NP_065829.4:p.Glu351Gln
Search 100 bp 5'
Search 100 bp 3'