Canonical Allele Identifier: CA138324767

Gene: POLH POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43597843C>G , CM000668.2:g.43597843C>G	GRCh38
NC_000006.11:g.43565580C>G , CM000668.1:g.43565580C>G	GRCh37
NC_000006.10:g.43673558C>G	NCBI36
NG_009252.1:g.26703C>G , LRG_470:g.26703C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006502.3:c.638C>G (POLH) MANE Select	NP_006493.1:p.Ser213Ter
ENST00000372236.9:c.638C>G (POLH) MANE Select	ENSP00000361310.4:p.Ser213Ter
NM_001291969.1:c.266C>G (POLH)	NP_001278898.1:p.Ser89Ter
NM_001291969.2:c.266C>G (POLH)	NP_001278898.1:p.Ser89Ter
NM_001291970.1:c.638C>G (POLH)	NP_001278899.1:p.Ser213Ter
NM_001291970.2:c.638C>G (POLH)	NP_001278899.1:p.Ser213Ter
NM_001318876.2:c.945+68572C>G (POLR1C)	NP_001305805.1:n.945+68572C>G
NM_006502.2:c.638C>G , LRG_470t1:c.638C>G (POLH)	NP_006493.1:p.Ser213Ter
ENST00000372226.1:c.638C>G (POLH)	ENSP00000361300.1:p.Ser213Ter
ENST00000372236.8:c.638C>G (POLH)	ENSP00000361310.4:p.Ser213Ter
XM_005249186.2:c.452C>G (POLH)	XP_005249243.1:p.Ser151Ter
XM_005249186.4:c.452C>G (POLH)	XP_005249243.1:p.Ser151Ter
XM_011514698.1:c.266C>G (POLH)	XP_011513000.1:p.Ser89Ter
XM_011514698.3:c.266C>G (POLH)	XP_011513000.1:p.Ser89Ter
XM_024446466.1:c.386C>G (POLH)	XP_024302234.1:p.Ser129Ter
XM_024446467.1:c.182C>G (POLH)	XP_024302235.1:p.Ser61Ter