Canonical Allele Identifier: CA406973555

Gene: POLD1

Linked Data

• ClinVar Variation Id: 1634721
• ClinVar RCV Id: RCV002142933
• dbSNP Id: rs2122241054
• gnomAD v4: 19-50402131-G-A
• MyVariant Identifiers: chr19:g.50905388G>A (hg19) ; chr19:g.50402131G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50402131G>A , CM000681.2:g.50402131G>A	GRCh38
NC_000019.9:g.50905388G>A , CM000681.1:g.50905388G>A	GRCh37
NC_000019.8:g.55597200G>A	NCBI36
NG_033800.1:g.22809G>A , LRG_785:g.22809G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593887.2:c.589+7G>A	ENSP00000472607.2:n.589+7G>A
ENST00000600746.2:n.707G>A
ENST00000644560.2:c.589+7G>A	ENSP00000495618.2:n.589+7G>A
ENST00000687454.1:c.589+7G>A	ENSP00000510052.1:n.589+7G>A
ENST00000440232.7:c.589+7G>A MANE Select	ENSP00000406046.1:n.589+7G>A
ENST00000595904.6:c.589+7G>A	ENSP00000472445.1:n.589+7G>A
ENST00000599857.7:c.589+7G>A	ENSP00000473052.1:n.589+7G>A
ENST00000601098.6:c.589+7G>A	ENSP00000472600.2:n.589+7G>A
ENST00000613923.6:c.589+7G>A	ENSP00000481858.2:n.589+7G>A
ENST00000643407.1:c.589+7G>A	ENSP00000496078.1:n.589+7G>A
ENST00000440232.6:c.589+7G>A	ENSP00000406046.1:n.589+7G>A
ENST00000595904.5:c.589+7G>A	ENSP00000472445.1:n.589+7G>A
ENST00000599857.5:c.589+7G>A	ENSP00000473052.1:n.589+7G>A
ENST00000600746.1:n.621G>A
ENST00000600859.5:c.589+7G>A	ENSP00000470726.1:n.589+7G>A
ENST00000601098.5:c.596G>A	ENSP00000472600.1:p.Cys199Tyr
ENST00000613923.4:c.589+7G>A	ENSP00000481858.1:n.589+7G>A
NM_001256849.1:c.589+7G>A , LRG_785t1:c.589+7G>A	NP_001243778.1:n.589+7G>A
NM_001308632.1:c.589+7G>A , LRG_785t2:c.589+7G>A	NP_001295561.1:n.589+7G>A
NM_002691.3:c.589+7G>A	NP_002682.2:n.589+7G>A
NR_046402.1:n.658+7G>A
XM_005259008.3:c.589+7G>A	XP_005259065.1:n.589+7G>A
XM_011527038.1:c.589+7G>A	XP_011525340.1:n.589+7G>A
XM_011527039.1:c.589+7G>A	XP_011525341.1:n.589+7G>A
XR_935835.1:n.691+7G>A
XM_005259008.4:c.589+7G>A	XP_005259065.1:n.589+7G>A
XM_017026881.1:c.589+7G>A	XP_016882370.1:n.589+7G>A
XM_017026882.2:c.589+7G>A	XP_016882371.1:n.589+7G>A
XR_935835.2:n.690+7G>A
NM_002691.4:c.589+7G>A MANE Select	NP_002682.2:n.589+7G>A
NR_046402.2:n.634+7G>A