Canonical Allele Identifier: CA393375366
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2783705
ClinVar RCV Id: RCV003659918
dbSNP Id: rs1432105347
gnomAD v2: 15-85383823-G-A
MyVariant Identifiers: chr15:g.85383823G>A (hg19) chr15:g.84840592G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840592G>A , CM000677.2:g.84840592G>A GRCh38
NC_000015.9:g.85383823G>A , CM000677.1:g.85383823G>A GRCh37
NC_000015.8:g.83184827G>A NCBI36
NG_054748.1:g.28962G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1313G>A MANE Select ENSP00000258888.6:p.Ser438Asn
ENST00000258888.5:c.1919G>A ENSP00000258888.5:p.Ser640Asn
NM_020778.4:c.1919G>A NP_065829.3:p.Ser640Asn
NM_020778.5:c.1313G>A MANE Select NP_065829.4:p.Ser438Asn
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