Canonical Allele Identifier: CA3827088

Gene: POLH POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43603942T>C , CM000668.2:g.43603942T>C	GRCh38
NC_000006.11:g.43571679T>C , CM000668.1:g.43571679T>C	GRCh37
NC_000006.10:g.43679657T>C	NCBI36
NG_009252.1:g.32802T>C , LRG_470:g.32802T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006502.3:c.815T>C (POLH) MANE Select	NP_006493.1:p.Ile272Thr
ENST00000372236.9:c.815T>C (POLH) MANE Select	ENSP00000361310.4:p.Ile272Thr
NM_001291969.1:c.443T>C (POLH)	NP_001278898.1:p.Ile148Thr
NM_001291969.2:c.443T>C (POLH)	NP_001278898.1:p.Ile148Thr
NM_001291970.1:c.815T>C (POLH)	NP_001278899.1:p.Ile272Thr
NM_001291970.2:c.815T>C (POLH)	NP_001278899.1:p.Ile272Thr
NM_001318876.2:c.945+74671T>C (POLR1C)	NP_001305805.1:n.945+74671T>C
NM_006502.2:c.815T>C , LRG_470t1:c.815T>C (POLH)	NP_006493.1:p.Ile272Thr
ENST00000372226.1:c.815T>C (POLH)	ENSP00000361300.1:p.Ile272Thr
ENST00000372236.8:c.815T>C (POLH)	ENSP00000361310.4:p.Ile272Thr
XM_005249186.2:c.629T>C (POLH)	XP_005249243.1:p.Ile210Thr
XM_005249186.4:c.629T>C (POLH)	XP_005249243.1:p.Ile210Thr
XM_011514698.1:c.443T>C (POLH)	XP_011513000.1:p.Ile148Thr
XM_011514698.3:c.443T>C (POLH)	XP_011513000.1:p.Ile148Thr
XM_024446466.1:c.563T>C (POLH)	XP_024302234.1:p.Ile188Thr
XM_024446467.1:c.359T>C (POLH)	XP_024302235.1:p.Ile120Thr