Canonical Allele Identifier: CA3827353
Community Standard Title: NM_006502.3(POLH):c.2031A>T (p.Val677=)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43614446A>T , CM000668.2:g.43614446A>T GRCh38
NC_000006.11:g.43582183A>T , CM000668.1:g.43582183A>T GRCh37
NC_000006.10:g.43690161A>T NCBI36
NG_009252.1:g.43306A>T , LRG_470:g.43306A>T

Transcript Alleles

HGVS Amino-acid Change
NM_006502.3:c.2031A>T (POLH) MANE Select NP_006493.1:p.Val677=
ENST00000372236.9:c.2031A>T (POLH) MANE Select ENSP00000361310.4:p.Val677=
NM_001291969.1:c.1659A>T (POLH) NP_001278898.1:p.Val553=
NM_001291969.2:c.1659A>T (POLH) NP_001278898.1:p.Val553=
NM_001291970.1:c.*715A>T (POLH) NP_001278899.1:n.*715A>T
NM_001291970.2:c.*715A>T (POLH) NP_001278899.1:n.*715A>T
NM_001318876.2:c.945+85175A>T (POLR1C) NP_001305805.1:n.945+85175A>T
NM_006502.2:c.2031A>T , LRG_470t1:c.2031A>T (POLH) NP_006493.1:p.Val677=
ENST00000372226.1:c.*715A>T (POLH) ENSP00000361300.1:n.*715A>T
ENST00000372236.8:c.2031A>T (POLH) ENSP00000361310.4:p.Val677=
ENST00000496137.5:c.449+5673T>A (GTPBP2) ENSP00000436973.1:n.449+5673T>A
XM_005249186.2:c.1845A>T (POLH) XP_005249243.1:p.Val615=
XM_005249186.4:c.1845A>T (POLH) XP_005249243.1:p.Val615=
XM_011514698.1:c.1659A>T (POLH) XP_011513000.1:p.Val553=
XM_011514698.3:c.1659A>T (POLH) XP_011513000.1:p.Val553=
XM_024446466.1:c.1779A>T (POLH) XP_024302234.1:p.Val593=
XM_024446467.1:c.1575A>T (POLH) XP_024302235.1:p.Val525=