Canonical Allele Identifier: CA393374059
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2767871
ClinVar RCV Id: RCV003574104
MyVariant Identifiers: chr15:g.85383511A>C (hg19) chr15:g.84840280A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840280A>C , CM000677.2:g.84840280A>C GRCh38
NC_000015.9:g.85383511A>C , CM000677.1:g.85383511A>C GRCh37
NC_000015.8:g.83184515A>C NCBI36
NG_054748.1:g.28650A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000258888.6:c.1001A>C MANE Select ENSP00000258888.6:p.Lys334Thr
ENST00000258888.5:c.1607A>C ENSP00000258888.5:p.Lys536Thr
NM_020778.4:c.1607A>C NP_065829.3:p.Lys536Thr
NM_020778.5:c.1001A>C MANE Select NP_065829.4:p.Lys334Thr
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