Canonical Allele Identifier: CA2573156785

Gene: POLD1

Linked Data

• ClinVar Variation Id: 1544147
• ClinVar RCV Id: RCV002172759
• dbSNP Id: rs2122520522
• gnomAD v4: 19-50417824-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50417824C>A , CM000681.2:g.50417824C>A	GRCh38
NC_000019.9:g.50921081C>A , CM000681.1:g.50921081C>A	GRCh37
NC_000019.8:g.55612893C>A	NCBI36
NG_033800.1:g.38502C>A , LRG_785:g.38502C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000593887.2:c.3219-18C>A	ENSP00000472607.2:n.3219-18C>A
ENST00000600746.2:n.3410-18C>A
ENST00000644560.2:c.3225-18C>A	ENSP00000495618.2:n.3225-18C>A
ENST00000687454.1:c.3219-18C>A	ENSP00000510052.1:n.3219-18C>A
ENST00000440232.7:c.3219-18C>A MANE Select	ENSP00000406046.1:n.3219-18C>A
ENST00000595904.6:c.3297-18C>A	ENSP00000472445.1:n.3297-18C>A
ENST00000599857.7:c.3219-18C>A	ENSP00000473052.1:n.3219-18C>A
ENST00000601098.6:c.3219-18C>A	ENSP00000472600.2:n.3219-18C>A
ENST00000613923.6:c.3147-18C>A	ENSP00000481858.2:n.3147-18C>A
ENST00000440232.6:c.3219-18C>A	ENSP00000406046.1:n.3219-18C>A
ENST00000593981.1:c.792-18C>A
ENST00000595904.5:c.3297-18C>A	ENSP00000472445.1:n.3297-18C>A
ENST00000596221.1:n.244-18C>A
ENST00000597963.5:n.563-18C>A
ENST00000599632.1:c.426+555C>A
ENST00000599857.5:c.3219-18C>A	ENSP00000473052.1:n.3219-18C>A
ENST00000600859.5:c.*86-18C>A	ENSP00000470726.1:n.*86-18C>A
ENST00000613923.4:c.3297-18C>A	ENSP00000481858.1:n.3297-18C>A
NM_001256849.1:c.3219-18C>A , LRG_785t1:c.3219-18C>A	NP_001243778.1:n.3219-18C>A
NM_001308632.1:c.3297-18C>A , LRG_785t2:c.3297-18C>A	NP_001295561.1:n.3297-18C>A
NM_002691.3:c.3219-18C>A	NP_002682.2:n.3219-18C>A
NR_046402.1:n.3185-18C>A
XM_005259008.3:c.3147-18C>A	XP_005259065.1:n.3147-18C>A
XM_011527038.1:c.3219-18C>A	XP_011525340.1:n.3219-18C>A
XM_011527039.1:c.3219-18C>A	XP_011525341.1:n.3219-18C>A
XM_005259008.4:c.3147-18C>A	XP_005259065.1:n.3147-18C>A
XM_017026881.1:c.3219-18C>A	XP_016882370.1:n.3219-18C>A
XM_017026882.2:c.3147-18C>A	XP_016882371.1:n.3147-18C>A
NM_002691.4:c.3219-18C>A MANE Select	NP_002682.2:n.3219-18C>A
NR_046402.2:n.3161-18C>A