Canonical Allele Identifier: CA393374402
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2449121
ClinVar RCV Id: RCV003186901
gnomAD v4: 15-84840375-G-T
MyVariant Identifiers: chr15:g.85383606G>T (hg19) chr15:g.84840375G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840375G>T , CM000677.2:g.84840375G>T GRCh38
NC_000015.9:g.85383606G>T , CM000677.1:g.85383606G>T GRCh37
NC_000015.8:g.83184610G>T NCBI36
NG_054748.1:g.28745G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258888.6:c.1096G>T MANE Select ENSP00000258888.6:p.Val366Phe
ENST00000258888.5:c.1702G>T ENSP00000258888.5:p.Val568Phe
NM_020778.4:c.1702G>T NP_065829.3:p.Val568Phe
NM_020778.5:c.1096G>T MANE Select NP_065829.4:p.Val366Phe
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