Canonical Allele Identifier: CA492277427
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2030433
ClinVar RCV Id: RCV002898588
MyVariant Identifiers: chr15:g.85383506A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840275A>G , CM000677.2:g.84840275A>G GRCh38
NC_000015.9:g.85383506A>G , CM000677.1:g.85383506A>G GRCh37
NC_000015.8:g.83184510A>G NCBI36
NG_054748.1:g.28645A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000258888.6:c.996A>G MANE Select ENSP00000258888.6:p.Leu332=
ENST00000258888.5:c.1602A>G ENSP00000258888.5:p.Leu534=
NM_020778.4:c.1602A>G NP_065829.3:p.Leu534=
NM_020778.5:c.996A>G MANE Select NP_065829.4:p.Leu332=
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