Canonical Allele Identifier: CA393373768
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1982272
ClinVar RCV Id: RCV002766668
dbSNP Id: rs1261817894
gnomAD v2: 15-85383424-A-T
gnomAD v3: 15-84840193-A-T
gnomAD v4: 15-84840193-A-T
MyVariant Identifiers: chr15:g.85383424A>T (hg19) chr15:g.84840193A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840193A>T , CM000677.2:g.84840193A>T GRCh38
NC_000015.9:g.85383424A>T , CM000677.1:g.85383424A>T GRCh37
NC_000015.8:g.83184428A>T NCBI36
NG_054748.1:g.28563A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.914A>T MANE Select ENSP00000258888.6:p.Gln305Leu
ENST00000258888.5:c.1520A>T ENSP00000258888.5:p.Gln507Leu
NM_020778.4:c.1520A>T NP_065829.3:p.Gln507Leu
NM_020778.5:c.914A>T MANE Select NP_065829.4:p.Gln305Leu
Search 100 bp 5'
Search 100 bp 3'