Canonical Allele Identifier: CA3827242
Community Standard Title: NM_006502.3(POLH):c.1406C>T (p.Ala469Val)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43613821C>T , CM000668.2:g.43613821C>T GRCh38
NC_000006.11:g.43581558C>T , CM000668.1:g.43581558C>T GRCh37
NC_000006.10:g.43689536C>T NCBI36
NG_009252.1:g.42681C>T , LRG_470:g.42681C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006502.3:c.1406C>T (POLH) MANE Select NP_006493.1:p.Ala469Val
ENST00000372236.9:c.1406C>T (POLH) MANE Select ENSP00000361310.4:p.Ala469Val
NM_001291969.1:c.1034C>T (POLH) NP_001278898.1:p.Ala345Val
NM_001291969.2:c.1034C>T (POLH) NP_001278898.1:p.Ala345Val
NM_001291970.1:c.*90C>T (POLH) NP_001278899.1:n.*90C>T
NM_001291970.2:c.*90C>T (POLH) NP_001278899.1:n.*90C>T
NM_001318876.2:c.945+84550C>T (POLR1C) NP_001305805.1:n.945+84550C>T
NM_006502.2:c.1406C>T , LRG_470t1:c.1406C>T (POLH) NP_006493.1:p.Ala469Val
ENST00000372226.1:c.*90C>T (POLH) ENSP00000361300.1:n.*90C>T
ENST00000372236.8:c.1406C>T (POLH) ENSP00000361310.4:p.Ala469Val
ENST00000496137.5:c.449+6298G>A (GTPBP2) ENSP00000436973.1:n.449+6298G>A
XM_005249186.2:c.1220C>T (POLH) XP_005249243.1:p.Ala407Val
XM_005249186.4:c.1220C>T (POLH) XP_005249243.1:p.Ala407Val
XM_011514698.1:c.1034C>T (POLH) XP_011513000.1:p.Ala345Val
XM_011514698.3:c.1034C>T (POLH) XP_011513000.1:p.Ala345Val
XM_024446466.1:c.1154C>T (POLH) XP_024302234.1:p.Ala385Val
XM_024446467.1:c.950C>T (POLH) XP_024302235.1:p.Ala317Val