Canonical Allele Identifier: CA3827137

Gene: POLH POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43604730C>T , CM000668.2:g.43604730C>T	GRCh38
NC_000006.11:g.43572467C>T , CM000668.1:g.43572467C>T	GRCh37
NC_000006.10:g.43680445C>T	NCBI36
NG_009252.1:g.33590C>T , LRG_470:g.33590C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006502.3:c.1000C>T (POLH) MANE Select	NP_006493.1:p.Arg334Trp
ENST00000372236.9:c.1000C>T (POLH) MANE Select	ENSP00000361310.4:p.Arg334Trp
NM_001291969.1:c.628C>T (POLH)	NP_001278898.1:p.Arg210Trp
NM_001291969.2:c.628C>T (POLH)	NP_001278898.1:p.Arg210Trp
NM_001291970.1:c.1000C>T (POLH)	NP_001278899.1:p.Arg334Trp
NM_001291970.2:c.1000C>T (POLH)	NP_001278899.1:p.Arg334Trp
NM_001318876.2:c.945+75459C>T (POLR1C)	NP_001305805.1:n.945+75459C>T
NM_006502.2:c.1000C>T , LRG_470t1:c.1000C>T (POLH)	NP_006493.1:p.Arg334Trp
ENST00000372226.1:c.1000C>T (POLH)	ENSP00000361300.1:p.Arg334Trp
ENST00000372236.8:c.1000C>T (POLH)	ENSP00000361310.4:p.Arg334Trp
XM_005249186.2:c.814C>T (POLH)	XP_005249243.1:p.Arg272Trp
XM_005249186.4:c.814C>T (POLH)	XP_005249243.1:p.Arg272Trp
XM_011514698.1:c.628C>T (POLH)	XP_011513000.1:p.Arg210Trp
XM_011514698.3:c.628C>T (POLH)	XP_011513000.1:p.Arg210Trp
XM_024446466.1:c.748C>T (POLH)	XP_024302234.1:p.Arg250Trp
XM_024446467.1:c.544C>T (POLH)	XP_024302235.1:p.Arg182Trp