Canonical Allele Identifier: CA393373981
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1476716
ClinVar RCV Id: RCV001978088 RCV003303547
dbSNP Id: rs1343260515
gnomAD v2: 15-85383493-G-A
gnomAD v3: 15-84840262-G-A
gnomAD v4: 15-84840262-G-A
MyVariant Identifiers: chr15:g.85383493G>A (hg19) chr15:g.84840262G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840262G>A , CM000677.2:g.84840262G>A GRCh38
NC_000015.9:g.85383493G>A , CM000677.1:g.85383493G>A GRCh37
NC_000015.8:g.83184497G>A NCBI36
NG_054748.1:g.28632G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.983G>A MANE Select ENSP00000258888.6:p.Arg328Gln
ENST00000258888.5:c.1589G>A ENSP00000258888.5:p.Arg530Gln
NM_020778.4:c.1589G>A NP_065829.3:p.Arg530Gln
NM_020778.5:c.983G>A MANE Select NP_065829.4:p.Arg328Gln
Search 100 bp 5'
Search 100 bp 3'