Canonical Allele Identifier: CA3827230

Gene: POLH GTPBP2 POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43613714C>A , CM000668.2:g.43613714C>A	GRCh38
NC_000006.11:g.43581451C>A , CM000668.1:g.43581451C>A	GRCh37
NC_000006.10:g.43689429C>A	NCBI36
NG_009252.1:g.42574C>A , LRG_470:g.42574C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006502.3:c.1299C>A (POLH) MANE Select	NP_006493.1:p.Ala433=
ENST00000372236.9:c.1299C>A (POLH) MANE Select	ENSP00000361310.4:p.Ala433=
NM_001291969.1:c.927C>A (POLH)	NP_001278898.1:p.Ala309=
NM_001291969.2:c.927C>A (POLH)	NP_001278898.1:p.Ala309=
NM_001291970.1:c.1245-17C>A (POLH)	NP_001278899.1:n.1245-17C>A
NM_001291970.2:c.1245-17C>A (POLH)	NP_001278899.1:n.1245-17C>A
NM_001318876.2:c.945+84443C>A (POLR1C)	NP_001305805.1:n.945+84443C>A
NM_006502.2:c.1299C>A , LRG_470t1:c.1299C>A (POLH)	NP_006493.1:p.Ala433=
ENST00000372226.1:c.1245-17C>A (POLH)	ENSP00000361300.1:n.1245-17C>A
ENST00000372236.8:c.1299C>A (POLH)	ENSP00000361310.4:p.Ala433=
ENST00000496137.5:c.449+6405G>T (GTPBP2)	ENSP00000436973.1:n.449+6405G>T
XM_005249186.2:c.1113C>A (POLH)	XP_005249243.1:p.Ala371=
XM_005249186.4:c.1113C>A (POLH)	XP_005249243.1:p.Ala371=
XM_011514698.1:c.927C>A (POLH)	XP_011513000.1:p.Ala309=
XM_011514698.3:c.927C>A (POLH)	XP_011513000.1:p.Ala309=
XM_024446466.1:c.1047C>A (POLH)	XP_024302234.1:p.Ala349=
XM_024446467.1:c.843C>A (POLH)	XP_024302235.1:p.Ala281=