Canonical Allele Identifier: CA3827275

Gene: POLH GTPBP2 POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43614028T>C , CM000668.2:g.43614028T>C	GRCh38
NC_000006.11:g.43581765T>C , CM000668.1:g.43581765T>C	GRCh37
NC_000006.10:g.43689743T>C	NCBI36
NG_009252.1:g.42888T>C , LRG_470:g.42888T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006502.3:c.1613T>C (POLH) MANE Select	NP_006493.1:p.Leu538Pro
ENST00000372236.9:c.1613T>C (POLH) MANE Select	ENSP00000361310.4:p.Leu538Pro
NM_001291969.1:c.1241T>C (POLH)	NP_001278898.1:p.Leu414Pro
NM_001291969.2:c.1241T>C (POLH)	NP_001278898.1:p.Leu414Pro
NM_001291970.1:c.*297T>C (POLH)	NP_001278899.1:n.*297T>C
NM_001291970.2:c.*297T>C (POLH)	NP_001278899.1:n.*297T>C
NM_001318876.2:c.945+84757T>C (POLR1C)	NP_001305805.1:n.945+84757T>C
NM_006502.2:c.1613T>C , LRG_470t1:c.1613T>C (POLH)	NP_006493.1:p.Leu538Pro
ENST00000372226.1:c.*297T>C (POLH)	ENSP00000361300.1:n.*297T>C
ENST00000372236.8:c.1613T>C (POLH)	ENSP00000361310.4:p.Leu538Pro
ENST00000496137.5:c.449+6091A>G (GTPBP2)	ENSP00000436973.1:n.449+6091A>G
XM_005249186.2:c.1427T>C (POLH)	XP_005249243.1:p.Leu476Pro
XM_005249186.4:c.1427T>C (POLH)	XP_005249243.1:p.Leu476Pro
XM_011514698.1:c.1241T>C (POLH)	XP_011513000.1:p.Leu414Pro
XM_011514698.3:c.1241T>C (POLH)	XP_011513000.1:p.Leu414Pro
XM_024446466.1:c.1361T>C (POLH)	XP_024302234.1:p.Leu454Pro
XM_024446467.1:c.1157T>C (POLH)	XP_024302235.1:p.Leu386Pro