Canonical Allele Identifier: CA364280655

Gene: POLH POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43597776A>C , CM000668.2:g.43597776A>C	GRCh38
NC_000006.11:g.43565513A>C , CM000668.1:g.43565513A>C	GRCh37
NC_000006.10:g.43673491A>C	NCBI36
NG_009252.1:g.26636A>C , LRG_470:g.26636A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006502.3:c.571A>C (POLH) MANE Select	NP_006493.1:p.Thr191Pro
ENST00000372236.9:c.571A>C (POLH) MANE Select	ENSP00000361310.4:p.Thr191Pro
NM_001291969.1:c.199A>C (POLH)	NP_001278898.1:p.Thr67Pro
NM_001291969.2:c.199A>C (POLH)	NP_001278898.1:p.Thr67Pro
NM_001291970.1:c.571A>C (POLH)	NP_001278899.1:p.Thr191Pro
NM_001291970.2:c.571A>C (POLH)	NP_001278899.1:p.Thr191Pro
NM_001318876.2:c.945+68505A>C (POLR1C)	NP_001305805.1:n.945+68505A>C
NM_006502.2:c.571A>C , LRG_470t1:c.571A>C (POLH)	NP_006493.1:p.Thr191Pro
ENST00000372226.1:c.571A>C (POLH)	ENSP00000361300.1:p.Thr191Pro
ENST00000372236.8:c.571A>C (POLH)	ENSP00000361310.4:p.Thr191Pro
XM_005249186.2:c.385A>C (POLH)	XP_005249243.1:p.Thr129Pro
XM_005249186.4:c.385A>C (POLH)	XP_005249243.1:p.Thr129Pro
XM_011514698.1:c.199A>C (POLH)	XP_011513000.1:p.Thr67Pro
XM_011514698.3:c.199A>C (POLH)	XP_011513000.1:p.Thr67Pro
XM_024446466.1:c.319A>C (POLH)	XP_024302234.1:p.Thr107Pro
XM_024446467.1:c.115A>C (POLH)	XP_024302235.1:p.Thr39Pro