Canonical Allele Identifier: CA7708762
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 390931
ClinVar RCV Id: RCV000436925
dbSNP Id: rs370679146
ExAC: 15:85360048 G / T
gnomAD v2: 15-85360048-G-T
gnomAD v3: 15-84816817-G-T
gnomAD v4: 15-84816817-G-T
MyVariant Identifiers: chr15:g.85360048G>T (hg19) chr15:g.84816817G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84816817G>T , CM000677.2:g.84816817G>T GRCh38
NC_000015.9:g.85360048G>T , CM000677.1:g.85360048G>T GRCh37
NC_000015.8:g.83161052G>T NCBI36
NG_054748.1:g.5187G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.5:c.-30G>T ENSP00000258888.5:n.-30G>T
NM_020778.4:c.-30G>T NP_065829.3:n.-30G>T
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