Canonical Allele Identifier: CA3827003
Community Standard Title: NM_006502.3(POLH):c.525C>T (p.Leu175=)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43597730C>T , CM000668.2:g.43597730C>T GRCh38
NC_000006.11:g.43565467C>T , CM000668.1:g.43565467C>T GRCh37
NC_000006.10:g.43673445C>T NCBI36
NG_009252.1:g.26590C>T , LRG_470:g.26590C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006502.3:c.525C>T (POLH) MANE Select NP_006493.1:p.Leu175=
ENST00000372236.9:c.525C>T (POLH) MANE Select ENSP00000361310.4:p.Leu175=
NM_001291969.1:c.153C>T (POLH) NP_001278898.1:p.Leu51=
NM_001291969.2:c.153C>T (POLH) NP_001278898.1:p.Leu51=
NM_001291970.1:c.525C>T (POLH) NP_001278899.1:p.Leu175=
NM_001291970.2:c.525C>T (POLH) NP_001278899.1:p.Leu175=
NM_001318876.2:c.945+68459C>T (POLR1C) NP_001305805.1:n.945+68459C>T
NM_006502.2:c.525C>T , LRG_470t1:c.525C>T (POLH) NP_006493.1:p.Leu175=
ENST00000372226.1:c.525C>T (POLH) ENSP00000361300.1:p.Leu175=
ENST00000372236.8:c.525C>T (POLH) ENSP00000361310.4:p.Leu175=
XM_005249186.2:c.339C>T (POLH) XP_005249243.1:p.Leu113=
XM_005249186.4:c.339C>T (POLH) XP_005249243.1:p.Leu113=
XM_011514698.1:c.153C>T (POLH) XP_011513000.1:p.Leu51=
XM_011514698.3:c.153C>T (POLH) XP_011513000.1:p.Leu51=
XM_024446466.1:c.273C>T (POLH) XP_024302234.1:p.Leu91=
XM_024446467.1:c.69C>T (POLH) XP_024302235.1:p.Leu23=