Canonical Allele Identifier: CA138317773

Gene: POLH POLR1C

Linked Data

• dbSNP Id: rs56239418
• gnomAD v4: 6-43587329-A-G
• MyVariant Identifiers: chr6:g.43555066A>G (hg19) ; chr6:g.43587329A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43587329A>G , CM000668.2:g.43587329A>G	GRCh38
NC_000006.11:g.43555066A>G , CM000668.1:g.43555066A>G	GRCh37
NC_000006.10:g.43663044A>G	NCBI36
NG_009252.1:g.16189A>G , LRG_470:g.16189A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372236.9:c.330A>G (POLH) MANE Select	ENSP00000361310.4:p.Glu110=
ENST00000372226.1:c.330A>G (POLH)	ENSP00000361300.1:p.Glu110=
ENST00000372236.8:c.330A>G (POLH)	ENSP00000361310.4:p.Glu110=
ENST00000443535.1:c.144A>G (POLH)	ENSP00000405320.1:p.Glu48=
NM_001291969.1:c.118+4188A>G (POLH)	NP_001278898.1:n.118+4188A>G
NM_001291970.1:c.330A>G (POLH)	NP_001278899.1:p.Glu110=
NM_006502.2:c.330A>G , LRG_470t1:c.330A>G (POLH)	NP_006493.1:p.Glu110=
XM_005249186.2:c.144A>G (POLH)	XP_005249243.1:p.Glu48=
XM_011514698.1:c.118+4188A>G (POLH)	XP_011513000.1:n.118+4188A>G
XM_005249186.4:c.144A>G (POLH)	XP_005249243.1:p.Glu48=
XM_011514698.3:c.118+4188A>G (POLH)	XP_011513000.1:n.118+4188A>G
XM_024446466.1:c.78A>G (POLH)	XP_024302234.1:p.Glu26=
XM_024446467.1:c.-290A>G (POLH)	XP_024302235.1:n.-290A>G
NM_001291969.2:c.118+4188A>G (POLH)	NP_001278898.1:n.118+4188A>G
NM_001291970.2:c.330A>G (POLH)	NP_001278899.1:p.Glu110=
NM_006502.3:c.330A>G (POLH) MANE Select	NP_006493.1:p.Glu110=
NM_001318876.2:c.945+58058A>G (POLR1C)	NP_001305805.1:n.945+58058A>G