Canonical Allele Identifier: CA393374026
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2793763
ClinVar RCV Id: RCV003670450
MyVariant Identifiers: chr15:g.85383504T>G (hg19) chr15:g.84840273T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840273T>G , CM000677.2:g.84840273T>G GRCh38
NC_000015.9:g.85383504T>G , CM000677.1:g.85383504T>G GRCh37
NC_000015.8:g.83184508T>G NCBI36
NG_054748.1:g.28643T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000258888.6:c.994T>G MANE Select ENSP00000258888.6:p.Leu332Val
ENST00000258888.5:c.1600T>G ENSP00000258888.5:p.Leu534Val
NM_020778.4:c.1600T>G NP_065829.3:p.Leu534Val
NM_020778.5:c.994T>G MANE Select NP_065829.4:p.Leu332Val
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