Canonical Allele Identifier: CA14893973
Gene: PDXK HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.43752747G>A
GRCh37 chr21:g.45172628G>A
gnomAD v2:
21:45172628 G / A
gnomAD v3:
21:43752747 G / A
gnomAD v4:
chr21-43752747-G-A
Joint Max Group AF 0.43565242 (EAS)
Genomes Max Group AF 0.45595423 (EAS)
Exomes Max Group AF 0.43008513 (EAS)
ClinVar RCV:
RCV001710211
ClinVar Variation:
1286429
dbSNP:
2010795
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43752747G>A , CM000683.2:g.43752747G>A GRCh38
NC_000021.8:g.45172628G>A , CM000683.1:g.45172628G>A GRCh37
NC_000021.7:g.43997056G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000291565.9:c.622+118G>A MANE Select ENSP00000291565.4:n.622+118G>A
ENST00000291565.8:c.622+118G>A ENSP00000291565.4:n.622+118G>A
ENST00000343528.10:n.592+118G>A
ENST00000398078.7:n.671+118G>A
ENST00000467908.1:c.502+118G>A ENSP00000420708.1:n.502+118G>A
ENST00000468090.5:c.538+118G>A ENSP00000418359.1:n.538+118G>A
ENST00000468392.5:n.667+118G>A
ENST00000481512.5:n.571+118G>A
ENST00000490666.5:n.505+118G>A
ENST00000498040.5:n.816+118G>A
NM_003681.4:c.622+118G>A NP_003672.1:n.622+118G>A
XM_005261195.2:c.904+118G>A XP_005261252.2:n.904+118G>A
XM_005261196.3:c.649+118G>A XP_005261253.1:n.649+118G>A
XM_005261198.2:c.502+118G>A XP_005261255.1:n.502+118G>A
XM_005261199.2:c.403+118G>A XP_005261256.1:n.403+118G>A
XM_011529758.1:c.805+118G>A XP_011528060.1:n.805+118G>A
XM_011529759.1:c.448+118G>A XP_011528061.1:n.448+118G>A
XM_011529760.1:c.403+118G>A XP_011528062.1:n.403+118G>A
XM_011529761.1:c.403+118G>A XP_011528063.1:n.403+118G>A
NM_001331030.1:c.502+118G>A NP_001317959.1:n.502+118G>A
XM_011529758.3:c.805+118G>A XP_011528060.1:n.805+118G>A
XM_011529760.2:c.403+118G>A XP_011528062.1:n.403+118G>A
XM_017028483.2:c.403+118G>A XP_016883972.1:n.403+118G>A
XM_017028484.1:c.403+118G>A XP_016883973.1:n.403+118G>A
NM_003681.5:c.622+118G>A MANE Select NP_003672.1:n.622+118G>A
NM_001331030.2:c.502+118G>A NP_001317959.1:n.502+118G>A
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