Canonical Allele Identifier: CA406981606

Gene: POLD1

Linked Data

• gnomAD v4: 19-50408729-G-A
• MyVariant Identifiers: chr19:g.50911986G>A (hg19) ; chr19:g.50408729G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50408729G>A , CM000681.2:g.50408729G>A	GRCh38
NC_000019.9:g.50911986G>A , CM000681.1:g.50911986G>A	GRCh37
NC_000019.8:g.55603798G>A	NCBI36
NG_033800.1:g.29407G>A , LRG_785:g.29407G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593887.2:c.1776-56G>A	ENSP00000472607.2:n.1776-56G>A
ENST00000600746.2:n.1967-56G>A
ENST00000644560.2:c.1798G>A	ENSP00000495618.2:p.Gly600Arg
ENST00000687454.1:c.1776-56G>A	ENSP00000510052.1:n.1776-56G>A
ENST00000440232.7:c.1776-56G>A MANE Select	ENSP00000406046.1:n.1776-56G>A
ENST00000595904.6:c.1798G>A	ENSP00000472445.1:p.Gly600Arg
ENST00000599857.7:c.1776-56G>A	ENSP00000473052.1:n.1776-56G>A
ENST00000601098.6:c.1776-56G>A	ENSP00000472600.2:n.1776-56G>A
ENST00000613923.6:c.1776-56G>A	ENSP00000481858.2:n.1776-56G>A
ENST00000643407.1:c.1776-56G>A	ENSP00000496078.1:n.1776-56G>A
ENST00000644560.1:c.669G>A
ENST00000440232.6:c.1776-56G>A	ENSP00000406046.1:n.1776-56G>A
ENST00000595904.5:c.1798G>A	ENSP00000472445.1:p.Gly600Arg
ENST00000596425.1:c.181-56G>A
ENST00000599857.5:c.1776-56G>A	ENSP00000473052.1:n.1776-56G>A
ENST00000600859.5:c.1776-56G>A	ENSP00000470726.1:n.1776-56G>A
ENST00000613923.4:c.1798G>A	ENSP00000481858.1:p.Gly600Arg
NM_001256849.1:c.1776-56G>A , LRG_785t1:c.1776-56G>A	NP_001243778.1:n.1776-56G>A
NM_001308632.1:c.1798G>A , LRG_785t2:c.1798G>A	NP_001295561.1:p.Gly600Arg
NM_002691.3:c.1776-56G>A	NP_002682.2:n.1776-56G>A
NR_046402.1:n.1845-56G>A
XM_005259008.3:c.1776-56G>A	XP_005259065.1:n.1776-56G>A
XM_011527038.1:c.1776-56G>A	XP_011525340.1:n.1776-56G>A
XM_011527039.1:c.1776-56G>A	XP_011525341.1:n.1776-56G>A
XR_935835.1:n.1878-56G>A
XM_005259008.4:c.1776-56G>A	XP_005259065.1:n.1776-56G>A
XM_017026881.1:c.1776-56G>A	XP_016882370.1:n.1776-56G>A
XM_017026882.2:c.1776-56G>A	XP_016882371.1:n.1776-56G>A
XR_935835.2:n.1877-56G>A
NM_002691.4:c.1776-56G>A MANE Select	NP_002682.2:n.1776-56G>A
NR_046402.2:n.1821-56G>A