Canonical Allele Identifier: CA450292403
ClinVar RCV:
ClinVar Variation:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43582439A>G , CM000668.2:g.43582439A>G GRCh38
NC_000006.11:g.43550176A>G , CM000668.1:g.43550176A>G GRCh37
NC_000006.10:g.43658154A>G NCBI36
NG_009252.1:g.11299A>G , LRG_470:g.11299A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372236.9:c.120A>G (POLH) MANE Select ENSP00000361310.4:p.Lys40=
ENST00000372226.1:c.120A>G (POLH) ENSP00000361300.1:p.Lys40=
ENST00000372236.8:c.120A>G (POLH) ENSP00000361310.4:p.Lys40=
ENST00000443535.1:c.-49-568A>G (POLH) ENSP00000405320.1:n.-49-568A>G
NM_001291969.1:c.-17-568A>G (POLH) NP_001278898.1:n.-17-568A>G
NM_001291970.1:c.120A>G (POLH) NP_001278899.1:p.Lys40=
NM_006502.2:c.120A>G , LRG_470t1:c.120A>G (POLH) NP_006493.1:p.Lys40=
XM_005249186.2:c.-49-568A>G (POLH) XP_005249243.1:n.-49-568A>G
XM_011514698.1:c.-35A>G (POLH) XP_011513000.1:n.-35A>G
XM_005249186.4:c.-49-568A>G (POLH) XP_005249243.1:n.-49-568A>G
XM_011514698.3:c.-35A>G (POLH) XP_011513000.1:n.-35A>G
XM_024446466.1:c.-2884A>G (POLH) XP_024302234.1:n.-2884A>G
XM_024446467.1:c.-500A>G (POLH) XP_024302235.1:n.-500A>G
NM_001291969.2:c.-17-568A>G (POLH) NP_001278898.1:n.-17-568A>G
NM_001291970.2:c.120A>G (POLH) NP_001278899.1:p.Lys40=
NM_006502.3:c.120A>G (POLH) MANE Select NP_006493.1:p.Lys40=
NM_001318876.2:c.945+53168A>G (POLR1C) NP_001305805.1:n.945+53168A>G