Canonical Allele Identifier: CA393375348
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1782530
ClinVar RCV Id: RCV002410563
gnomAD v4: 15-84840586-C-A
MyVariant Identifiers: chr15:g.85383817C>A (hg19) chr15:g.84840586C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840586C>A , CM000677.2:g.84840586C>A GRCh38
NC_000015.9:g.85383817C>A , CM000677.1:g.85383817C>A GRCh37
NC_000015.8:g.83184821C>A NCBI36
NG_054748.1:g.28956C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1307C>A MANE Select ENSP00000258888.6:p.Thr436Asn
ENST00000258888.5:c.1913C>A ENSP00000258888.5:p.Thr638Asn
NM_020778.4:c.1913C>A NP_065829.3:p.Thr638Asn
NM_020778.5:c.1307C>A MANE Select NP_065829.4:p.Thr436Asn
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