Canonical Allele Identifier: CA3827028

Gene: POLH POLR1C

Linked Data

• ClinVar Variation Id: 259990
• ClinVar RCV Id: RCV000241818 ; RCV000615798 ; RCV000953963
• dbSNP Id: rs2307456
• ExAC: 6:43565568 G / T
• gnomAD v2: 6-43565568-G-T
• gnomAD v3: 6-43597831-G-T
• gnomAD v4: 6-43597831-G-T
• MyVariant Identifiers: chr6:g.43565568G>T (hg19) ; chr6:g.43597831G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43597831G>T , CM000668.2:g.43597831G>T	GRCh38
NC_000006.11:g.43565568G>T , CM000668.1:g.43565568G>T	GRCh37
NC_000006.10:g.43673546G>T	NCBI36
NG_009252.1:g.26691G>T , LRG_470:g.26691G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372236.9:c.626G>T (POLH) MANE Select	ENSP00000361310.4:p.Gly209Val
ENST00000372226.1:c.626G>T (POLH)	ENSP00000361300.1:p.Gly209Val
ENST00000372236.8:c.626G>T (POLH)	ENSP00000361310.4:p.Gly209Val
NM_001291969.1:c.254G>T (POLH)	NP_001278898.1:p.Gly85Val
NM_001291970.1:c.626G>T (POLH)	NP_001278899.1:p.Gly209Val
NM_006502.2:c.626G>T , LRG_470t1:c.626G>T (POLH)	NP_006493.1:p.Gly209Val
XM_005249186.2:c.440G>T (POLH)	XP_005249243.1:p.Gly147Val
XM_011514698.1:c.254G>T (POLH)	XP_011513000.1:p.Gly85Val
XM_005249186.4:c.440G>T (POLH)	XP_005249243.1:p.Gly147Val
XM_011514698.3:c.254G>T (POLH)	XP_011513000.1:p.Gly85Val
XM_024446466.1:c.374G>T (POLH)	XP_024302234.1:p.Gly125Val
XM_024446467.1:c.170G>T (POLH)	XP_024302235.1:p.Gly57Val
NM_001291969.2:c.254G>T (POLH)	NP_001278898.1:p.Gly85Val
NM_001291970.2:c.626G>T (POLH)	NP_001278899.1:p.Gly209Val
NM_006502.3:c.626G>T (POLH) MANE Select	NP_006493.1:p.Gly209Val
NM_001318876.2:c.945+68560G>T (POLR1C)	NP_001305805.1:n.945+68560G>T