Canonical Allele Identifier: CA253638

Linked Data

ClinVar Variation Id: 5887
ClinVar RCV Id: RCV000006245
dbSNP Id: rs121908562
gnomAD v4: 6-43604646-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43604646G>T , CM000668.2:g.43604646G>T GRCh38
NC_000006.11:g.43572383G>T , CM000668.1:g.43572383G>T GRCh37
NC_000006.10:g.43680361G>T NCBI36
NG_009252.1:g.33506G>T , LRG_470:g.33506G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372236.9:c.916G>T (POLH) MANE Select ENSP00000361310.4:p.Glu306Ter
ENST00000372226.1:c.916G>T (POLH) ENSP00000361300.1:p.Glu306Ter
ENST00000372236.8:c.916G>T (POLH) ENSP00000361310.4:p.Glu306Ter
NM_001291969.1:c.544G>T (POLH) NP_001278898.1:p.Glu182Ter
NM_001291970.1:c.916G>T (POLH) NP_001278899.1:p.Glu306Ter
NM_006502.2:c.916G>T , LRG_470t1:c.916G>T (POLH) NP_006493.1:p.Glu306Ter
XM_005249186.2:c.730G>T (POLH) XP_005249243.1:p.Glu244Ter
XM_011514698.1:c.544G>T (POLH) XP_011513000.1:p.Glu182Ter
XM_005249186.4:c.730G>T (POLH) XP_005249243.1:p.Glu244Ter
XM_011514698.3:c.544G>T (POLH) XP_011513000.1:p.Glu182Ter
XM_024446466.1:c.664G>T (POLH) XP_024302234.1:p.Glu222Ter
XM_024446467.1:c.460G>T (POLH) XP_024302235.1:p.Glu154Ter
NM_001291969.2:c.544G>T (POLH) NP_001278898.1:p.Glu182Ter
NM_001291970.2:c.916G>T (POLH) NP_001278899.1:p.Glu306Ter
NM_006502.3:c.916G>T (POLH) MANE Select NP_006493.1:p.Glu306Ter
NM_001318876.2:c.945+75375G>T (POLR1C) NP_001305805.1:n.945+75375G>T