Canonical Allele Identifier: CA406974480

Gene: POLD1

Linked Data

• ClinVar Variation Id: 660133
• ClinVar RCV Id: RCV000817268
• dbSNP Id: rs1601201029
• gnomAD v4: 19-50402331-C-A
• MyVariant Identifiers: chr19:g.50905588C>A (hg19) ; chr19:g.50402331C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50402331C>A , CM000681.2:g.50402331C>A	GRCh38
NC_000019.9:g.50905588C>A , CM000681.1:g.50905588C>A	GRCh37
NC_000019.8:g.55597400C>A	NCBI36
NG_033800.1:g.23009C>A , LRG_785:g.23009C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000593887.2:c.716C>A	ENSP00000472607.2:p.Pro239His
ENST00000600746.2:n.907C>A
ENST00000644560.2:c.716C>A	ENSP00000495618.2:p.Pro239His
ENST00000687454.1:c.716C>A	ENSP00000510052.1:p.Pro239His
ENST00000440232.7:c.716C>A MANE Select	ENSP00000406046.1:p.Pro239His
ENST00000595904.6:c.716C>A	ENSP00000472445.1:p.Pro239His
ENST00000599857.7:c.716C>A	ENSP00000473052.1:p.Pro239His
ENST00000601098.6:c.716C>A	ENSP00000472600.2:p.Pro239His
ENST00000613923.6:c.716C>A	ENSP00000481858.2:p.Pro239His
ENST00000643407.1:c.716C>A	ENSP00000496078.1:p.Pro239His
ENST00000440232.6:c.716C>A	ENSP00000406046.1:p.Pro239His
ENST00000595904.5:c.716C>A	ENSP00000472445.1:p.Pro239His
ENST00000599857.5:c.716C>A	ENSP00000473052.1:p.Pro239His
ENST00000600746.1:n.821C>A
ENST00000600859.5:c.716C>A	ENSP00000470726.1:p.Pro239His
ENST00000613923.4:c.716C>A	ENSP00000481858.1:p.Pro239His
NM_001256849.1:c.716C>A , LRG_785t1:c.716C>A	NP_001243778.1:p.Pro239His
NM_001308632.1:c.716C>A , LRG_785t2:c.716C>A	NP_001295561.1:p.Pro239His
NM_002691.3:c.716C>A	NP_002682.2:p.Pro239His
NR_046402.1:n.785C>A
XM_005259008.3:c.716C>A	XP_005259065.1:p.Pro239His
XM_011527038.1:c.716C>A	XP_011525340.1:p.Pro239His
XM_011527039.1:c.716C>A	XP_011525341.1:p.Pro239His
XR_935835.1:n.818C>A
XM_005259008.4:c.716C>A	XP_005259065.1:p.Pro239His
XM_017026881.1:c.716C>A	XP_016882370.1:p.Pro239His
XM_017026882.2:c.716C>A	XP_016882371.1:p.Pro239His
XR_935835.2:n.817C>A
NM_002691.4:c.716C>A MANE Select	NP_002682.2:p.Pro239His
NR_046402.2:n.761C>A