Canonical Allele Identifier: CA7709121
Gene: ALPK3 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.84840372C>T
GRCh37 chr15:g.85383603C>T
gnomAD v2:
15:85383603 C / T
gnomAD v4:
chr15-84840372-C-T
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
ClinVar RCV:
RCV000478156
ClinVar Variation:
424341
dbSNP:
773730492
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840372C>T , CM000677.2:g.84840372C>T GRCh38
NC_000015.9:g.85383603C>T , CM000677.1:g.85383603C>T GRCh37
NC_000015.8:g.83184607C>T NCBI36
NG_054748.1:g.28742C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1093C>T MANE Select ENSP00000258888.6:p.Gln365Ter
ENST00000258888.5:c.1699C>T ENSP00000258888.5:p.Gln567Ter
NM_020778.4:c.1699C>T NP_065829.3:p.Gln567Ter
NM_020778.5:c.1093C>T MANE Select NP_065829.4:p.Gln365Ter
Search 100 bp 5'
Search 100 bp 3'