Canonical Allele Identifier: CA492277143
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2449104
ClinVar RCV Id: RCV003186890
MyVariant Identifiers: chr15:g.85383059C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84839828C>G , CM000677.2:g.84839828C>G GRCh38
NC_000015.9:g.85383059C>G , CM000677.1:g.85383059C>G GRCh37
NC_000015.8:g.83184063C>G NCBI36
NG_054748.1:g.28198C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000258888.6:c.549C>G MANE Select ENSP00000258888.6:p.Ala183=
ENST00000258888.5:c.1155C>G ENSP00000258888.5:p.Ala385=
NM_020778.4:c.1155C>G NP_065829.3:p.Ala385=
NM_020778.5:c.549C>G MANE Select NP_065829.4:p.Ala183=
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