Canonical Allele Identifier: CA204515

Gene: POLH POLR1C

Linked Data

• ClinVar Variation Id: 224062
• ClinVar RCV Id: RCV000208975 ; RCV003556267
• dbSNP Id: rs772570523
• ExAC: 6:43568829 G / A
• gnomAD v2: 6-43568829-G-A
• gnomAD v3: 6-43601092-G-A
• gnomAD v4: 6-43601092-G-A
• MyVariant Identifiers: chr6:g.43568829G>A (hg19) ; chr6:g.43601092G>A (hg38)
• PubMed: PMID:20301571 ; PMID:27004399

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43601092G>A , CM000668.2:g.43601092G>A	GRCh38
NC_000006.11:g.43568829G>A , CM000668.1:g.43568829G>A	GRCh37
NC_000006.10:g.43676807G>A	NCBI36
NG_009252.1:g.29952G>A , LRG_470:g.29952G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372236.9:c.764+1G>A (POLH) MANE Select	ENSP00000361310.4:n.764+1G>A
ENST00000372226.1:c.764+1G>A (POLH)	ENSP00000361300.1:n.764+1G>A
ENST00000372236.8:c.764+1G>A (POLH)	ENSP00000361310.4:n.764+1G>A
NM_001291969.1:c.392+1G>A (POLH)	NP_001278898.1:n.392+1G>A
NM_001291970.1:c.764+1G>A (POLH)	NP_001278899.1:n.764+1G>A
NM_006502.2:c.764+1G>A , LRG_470t1:c.764+1G>A (POLH)	NP_006493.1:n.764+1G>A
XM_005249186.2:c.578+1G>A (POLH)	XP_005249243.1:n.578+1G>A
XM_011514698.1:c.392+1G>A (POLH)	XP_011513000.1:n.392+1G>A
XM_005249186.4:c.578+1G>A (POLH)	XP_005249243.1:n.578+1G>A
XM_011514698.3:c.392+1G>A (POLH)	XP_011513000.1:n.392+1G>A
XM_024446466.1:c.512+1G>A (POLH)	XP_024302234.1:n.512+1G>A
XM_024446467.1:c.308+1G>A (POLH)	XP_024302235.1:n.308+1G>A
NM_001291969.2:c.392+1G>A (POLH)	NP_001278898.1:n.392+1G>A
NM_001291970.2:c.764+1G>A (POLH)	NP_001278899.1:n.764+1G>A
NM_006502.3:c.764+1G>A (POLH) MANE Select	NP_006493.1:n.764+1G>A
NM_001318876.2:c.945+71821G>A (POLR1C)	NP_001305805.1:n.945+71821G>A