Canonical Allele Identifier: CA309605976

Gene: POLD1

Linked Data

• ClinVar Variation Id: 507762
• ClinVar RCV Id: RCV000604938
• dbSNP Id: rs576035899
• MyVariant Identifiers: chr19:g.50887601G>C (hg19) ; chr19:g.50384344G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50384344G>C , CM000681.2:g.50384344G>C	GRCh38
NC_000019.9:g.50887601G>C , CM000681.1:g.50887601G>C	GRCh37
NC_000019.8:g.55579413G>C	NCBI36
NG_033800.1:g.5022G>C , LRG_785:g.5022G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600746.2:n.64G>C
ENST00000599857.7:c.-51G>C	ENSP00000473052.1:n.-51G>C
ENST00000601098.6:c.-174G>C	ENSP00000472600.2:n.-174G>C
ENST00000613923.6:c.-51G>C	ENSP00000481858.2:n.-51G>C
ENST00000643407.1:c.-174G>C	ENSP00000496078.1:n.-174G>C
ENST00000440232.6:c.-48G>C	ENSP00000406046.1:n.-48G>C
ENST00000600859.5:c.-48G>C	ENSP00000470726.1:n.-48G>C
ENST00000601098.5:c.-174G>C	ENSP00000472600.1:n.-174G>C
ENST00000613923.4:c.-48G>C	ENSP00000481858.1:n.-48G>C
NM_001256849.1:c.-51G>C , LRG_785t1:c.-51G>C	NP_001243778.1:n.-51G>C
NM_002691.3:c.-48G>C	NP_002682.2:n.-48G>C
NR_046402.1:n.22G>C
XM_005259008.3:c.-48G>C	XP_005259065.1:n.-48G>C
XR_935835.1:n.55G>C
XM_005259008.4:c.-48G>C	XP_005259065.1:n.-48G>C
XM_017026882.2:c.-51G>C	XP_016882371.1:n.-51G>C
XR_935835.2:n.54G>C