Canonical Allele Identifier: CA3827358

Gene: POLH GTPBP2 POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43614489A>G , CM000668.2:g.43614489A>G	GRCh38
NC_000006.11:g.43582226A>G , CM000668.1:g.43582226A>G	GRCh37
NC_000006.10:g.43690204A>G	NCBI36
NG_009252.1:g.43349A>G , LRG_470:g.43349A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006502.3:c.2074A>G (POLH) MANE Select	NP_006493.1:p.Thr692Ala
ENST00000372236.9:c.2074A>G (POLH) MANE Select	ENSP00000361310.4:p.Thr692Ala
NM_001291969.1:c.1702A>G (POLH)	NP_001278898.1:p.Thr568Ala
NM_001291969.2:c.1702A>G (POLH)	NP_001278898.1:p.Thr568Ala
NM_001291970.1:c.*758A>G (POLH)	NP_001278899.1:n.*758A>G
NM_001291970.2:c.*758A>G (POLH)	NP_001278899.1:n.*758A>G
NM_001318876.2:c.945+85218A>G (POLR1C)	NP_001305805.1:n.945+85218A>G
NM_006502.2:c.2074A>G , LRG_470t1:c.2074A>G (POLH)	NP_006493.1:p.Thr692Ala
ENST00000372226.1:c.*758A>G (POLH)	ENSP00000361300.1:n.*758A>G
ENST00000372236.8:c.2074A>G (POLH)	ENSP00000361310.4:p.Thr692Ala
ENST00000496137.5:c.449+5630T>C (GTPBP2)	ENSP00000436973.1:n.449+5630T>C
XM_005249186.2:c.1888A>G (POLH)	XP_005249243.1:p.Thr630Ala
XM_005249186.4:c.1888A>G (POLH)	XP_005249243.1:p.Thr630Ala
XM_011514698.1:c.1702A>G (POLH)	XP_011513000.1:p.Thr568Ala
XM_011514698.3:c.1702A>G (POLH)	XP_011513000.1:p.Thr568Ala
XM_024446466.1:c.1822A>G (POLH)	XP_024302234.1:p.Thr608Ala
XM_024446467.1:c.1618A>G (POLH)	XP_024302235.1:p.Thr540Ala