Canonical Allele Identifier: CA7709122
Gene: ALPK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1528753
ClinVar RCV Id: RCV002079766
dbSNP Id: rs146781915
ExAC: 15:85383614 C / A
gnomAD v2: 15-85383614-C-A
gnomAD v3: 15-84840383-C-A
gnomAD v4: 15-84840383-C-A
MyVariant Identifiers: chr15:g.85383614C>A (hg19) chr15:g.84840383C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840383C>A , CM000677.2:g.84840383C>A GRCh38
NC_000015.9:g.85383614C>A , CM000677.1:g.85383614C>A GRCh37
NC_000015.8:g.83184618C>A NCBI36
NG_054748.1:g.28753C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258888.6:c.1104C>A MANE Select ENSP00000258888.6:p.Thr368=
ENST00000258888.5:c.1710C>A ENSP00000258888.5:p.Thr570=
NM_020778.4:c.1710C>A NP_065829.3:p.Thr570=
NM_020778.5:c.1104C>A MANE Select NP_065829.4:p.Thr368=
Search 100 bp 5'
Search 100 bp 3'