Canonical Allele Identifier: CA9595763

Gene: POLD1

Linked Data

• ClinVar Variation Id: 391075
• ClinVar RCV Id: RCV000527359 ; RCV000562245 ; RCV001698318
• dbSNP Id: rs756717437
• ExAC: 19:50905287 A / G
• gnomAD v2: 19-50905287-A-G
• gnomAD v3: 19-50402030-A-G
• gnomAD v4: 19-50402030-A-G
• MyVariant Identifiers: chr19:g.50905287A>G (hg19) ; chr19:g.50402030A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50402030A>G , CM000681.2:g.50402030A>G	GRCh38
NC_000019.9:g.50905287A>G , CM000681.1:g.50905287A>G	GRCh37
NC_000019.8:g.55597099A>G	NCBI36
NG_033800.1:g.22708A>G , LRG_785:g.22708A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593887.2:c.495A>G	ENSP00000472607.2:p.Gln165=
ENST00000600746.2:n.606A>G
ENST00000644560.2:c.495A>G	ENSP00000495618.2:p.Gln165=
ENST00000687454.1:c.495A>G	ENSP00000510052.1:p.Gln165=
ENST00000440232.7:c.495A>G MANE Select	ENSP00000406046.1:p.Gln165=
ENST00000595904.6:c.495A>G	ENSP00000472445.1:p.Gln165=
ENST00000599857.7:c.495A>G	ENSP00000473052.1:p.Gln165=
ENST00000601098.6:c.495A>G	ENSP00000472600.2:p.Gln165=
ENST00000613923.6:c.495A>G	ENSP00000481858.2:p.Gln165=
ENST00000643407.1:c.495A>G	ENSP00000496078.1:p.Gln165=
ENST00000440232.6:c.495A>G	ENSP00000406046.1:p.Gln165=
ENST00000595904.5:c.495A>G	ENSP00000472445.1:p.Gln165=
ENST00000599857.5:c.495A>G	ENSP00000473052.1:p.Gln165=
ENST00000600746.1:n.520A>G
ENST00000600859.5:c.495A>G	ENSP00000470726.1:p.Gln165=
ENST00000601098.5:c.495A>G	ENSP00000472600.1:p.Gln165=
ENST00000613923.4:c.495A>G	ENSP00000481858.1:p.Gln165=
NM_001256849.1:c.495A>G , LRG_785t1:c.495A>G	NP_001243778.1:p.Gln165=
NM_001308632.1:c.495A>G , LRG_785t2:c.495A>G	NP_001295561.1:p.Gln165=
NM_002691.3:c.495A>G	NP_002682.2:p.Gln165=
NR_046402.1:n.564A>G
XM_005259008.3:c.495A>G	XP_005259065.1:p.Gln165=
XM_011527038.1:c.495A>G	XP_011525340.1:p.Gln165=
XM_011527039.1:c.495A>G	XP_011525341.1:p.Gln165=
XR_935835.1:n.597A>G
XM_005259008.4:c.495A>G	XP_005259065.1:p.Gln165=
XM_017026881.1:c.495A>G	XP_016882370.1:p.Gln165=
XM_017026882.2:c.495A>G	XP_016882371.1:p.Gln165=
XR_935835.2:n.596A>G
NM_002691.4:c.495A>G MANE Select	NP_002682.2:p.Gln165=
NR_046402.2:n.540A>G