Canonical Allele Identifier: CA393374989
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3227448
ClinVar RCV Id: RCV004524566
MyVariant Identifiers: chr15:g.85383753T>G (hg19) chr15:g.84840522T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840522T>G , CM000677.2:g.84840522T>G GRCh38
NC_000015.9:g.85383753T>G , CM000677.1:g.85383753T>G GRCh37
NC_000015.8:g.83184757T>G NCBI36
NG_054748.1:g.28892T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1243T>G MANE Select ENSP00000258888.6:p.Leu415Val
ENST00000258888.5:c.1849T>G ENSP00000258888.5:p.Leu617Val
NM_020778.4:c.1849T>G NP_065829.3:p.Leu617Val
NM_020778.5:c.1243T>G MANE Select NP_065829.4:p.Leu415Val
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