Canonical Allele Identifier: CA406972582
Gene: POLD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1408226
ClinVar RCV Id: RCV001909867
dbSNP Id: rs1193429671

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50401881C>G , CM000681.2:g.50401881C>G GRCh38
NC_000019.9:g.50905138C>G , CM000681.1:g.50905138C>G GRCh37
NC_000019.8:g.55596950C>G NCBI36
NG_033800.1:g.22559C>G , LRG_785:g.22559C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593887.2:c.420C>G ENSP00000472607.2:p.His140Gln
ENST00000600746.2:n.531C>G
ENST00000644560.2:c.420C>G ENSP00000495618.2:p.His140Gln
ENST00000687454.1:c.420C>G ENSP00000510052.1:p.His140Gln
ENST00000440232.7:c.420C>G MANE Select ENSP00000406046.1:p.His140Gln
ENST00000595904.6:c.420C>G ENSP00000472445.1:p.His140Gln
ENST00000599857.7:c.420C>G ENSP00000473052.1:p.His140Gln
ENST00000601098.6:c.420C>G ENSP00000472600.2:p.His140Gln
ENST00000613923.6:c.420C>G ENSP00000481858.2:p.His140Gln
ENST00000643407.1:c.420C>G ENSP00000496078.1:p.His140Gln
ENST00000440232.6:c.420C>G ENSP00000406046.1:p.His140Gln
ENST00000595904.5:c.420C>G ENSP00000472445.1:p.His140Gln
ENST00000599857.5:c.420C>G ENSP00000473052.1:p.His140Gln
ENST00000600746.1:n.445C>G
ENST00000600859.5:c.420C>G ENSP00000470726.1:p.His140Gln
ENST00000601098.5:c.420C>G ENSP00000472600.1:p.His140Gln
ENST00000613923.4:c.420C>G ENSP00000481858.1:p.His140Gln
NM_001256849.1:c.420C>G , LRG_785t1:c.420C>G NP_001243778.1:p.His140Gln
NM_001308632.1:c.420C>G , LRG_785t2:c.420C>G NP_001295561.1:p.His140Gln
NM_002691.3:c.420C>G NP_002682.2:p.His140Gln
NR_046402.1:n.489C>G
XM_005259008.3:c.420C>G XP_005259065.1:p.His140Gln
XM_011527038.1:c.420C>G XP_011525340.1:p.His140Gln
XM_011527039.1:c.420C>G XP_011525341.1:p.His140Gln
XR_935835.1:n.522C>G
XM_005259008.4:c.420C>G XP_005259065.1:p.His140Gln
XM_017026881.1:c.420C>G XP_016882370.1:p.His140Gln
XM_017026882.2:c.420C>G XP_016882371.1:p.His140Gln
XR_935835.2:n.521C>G
NM_002691.4:c.420C>G MANE Select NP_002682.2:p.His140Gln
NR_046402.2:n.465C>G