Canonical Allele Identifier: CA393375096
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2821178
ClinVar RCV Id: RCV003711518
MyVariant Identifiers: chr15:g.85383768C>G (hg19) chr15:g.84840537C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840537C>G , CM000677.2:g.84840537C>G GRCh38
NC_000015.9:g.85383768C>G , CM000677.1:g.85383768C>G GRCh37
NC_000015.8:g.83184772C>G NCBI36
NG_054748.1:g.28907C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1258C>G MANE Select ENSP00000258888.6:p.Leu420Val
ENST00000258888.5:c.1864C>G ENSP00000258888.5:p.Leu622Val
NM_020778.4:c.1864C>G NP_065829.3:p.Leu622Val
NM_020778.5:c.1258C>G MANE Select NP_065829.4:p.Leu420Val
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