Canonical Allele Identifier: CA364276373

Gene: POLH POLR1C

Linked Data

• MyVariant Identifiers: chr6:g.43555110T>G (hg19) ; chr6:g.43587373T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43587373T>G , CM000668.2:g.43587373T>G	GRCh38
NC_000006.11:g.43555110T>G , CM000668.1:g.43555110T>G	GRCh37
NC_000006.10:g.43663088T>G	NCBI36
NG_009252.1:g.16233T>G , LRG_470:g.16233T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372236.9:c.374T>G (POLH) MANE Select	ENSP00000361310.4:p.Val125Gly
ENST00000372226.1:c.374T>G (POLH)	ENSP00000361300.1:p.Val125Gly
ENST00000372236.8:c.374T>G (POLH)	ENSP00000361310.4:p.Val125Gly
ENST00000443535.1:c.188T>G (POLH)	ENSP00000405320.1:p.Val63Gly
NM_001291969.1:c.118+4232T>G (POLH)	NP_001278898.1:n.118+4232T>G
NM_001291970.1:c.374T>G (POLH)	NP_001278899.1:p.Val125Gly
NM_006502.2:c.374T>G , LRG_470t1:c.374T>G (POLH)	NP_006493.1:p.Val125Gly
XM_005249186.2:c.188T>G (POLH)	XP_005249243.1:p.Val63Gly
XM_011514698.1:c.118+4232T>G (POLH)	XP_011513000.1:n.118+4232T>G
XM_005249186.4:c.188T>G (POLH)	XP_005249243.1:p.Val63Gly
XM_011514698.3:c.118+4232T>G (POLH)	XP_011513000.1:n.118+4232T>G
XM_024446466.1:c.122T>G (POLH)	XP_024302234.1:p.Val41Gly
XM_024446467.1:c.-246T>G (POLH)	XP_024302235.1:n.-246T>G
NM_001291969.2:c.118+4232T>G (POLH)	NP_001278898.1:n.118+4232T>G
NM_001291970.2:c.374T>G (POLH)	NP_001278899.1:p.Val125Gly
NM_006502.3:c.374T>G (POLH) MANE Select	NP_006493.1:p.Val125Gly
NM_001318876.2:c.945+58102T>G (POLR1C)	NP_001305805.1:n.945+58102T>G