Canonical Allele Identifier: CA15233687
Gene: POLQ HGNC NCBI

Linked Data

dbSNP Id: rs6800901
gnomAD v2: 3-121154193-C-T
gnomAD v3: 3-121435346-C-T
gnomAD v4: 3-121435346-C-T
MyVariant Identifiers: chr3:g.121154193C>T (hg19) chr3:g.121435346C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.121435346C>T , CM000665.2:g.121435346C>T GRCh38
NC_000003.11:g.121154193C>T , CM000665.1:g.121154193C>T GRCh37
NC_000003.10:g.122636883C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000264233.6:c.7543+776G>A MANE Select ENSP00000264233.5:n.7543+776G>A
ENST00000264233.5:c.7543+776G>A ENSP00000264233.5:n.7543+776G>A
ENST00000621776.4:c.7948+776G>A ENSP00000481120.1:n.7948+776G>A
NM_199420.3:c.7543+776G>A NP_955452.3:n.7543+776G>A
XM_011512343.1:c.7405+776G>A XP_011510645.1:n.7405+776G>A
XM_011512344.1:c.7156+776G>A XP_011510646.1:n.7156+776G>A
XM_011512345.1:c.7138+776G>A XP_011510647.1:n.7138+776G>A
XM_011512346.1:c.7105+776G>A XP_011510648.1:n.7105+776G>A
XM_011512347.1:c.7543+776G>A XP_011510649.1:n.7543+776G>A
XM_011512348.1:c.7030+776G>A XP_011510650.1:n.7030+776G>A
XM_011512349.1:c.7030+776G>A XP_011510651.1:n.7030+776G>A
XM_011512350.1:c.6751+776G>A XP_011510652.1:n.6751+776G>A
XM_011512351.1:c.6373+776G>A XP_011510653.1:n.6373+776G>A
XM_011512354.1:c.5254+776G>A XP_011510656.1:n.5254+776G>A
XM_011512343.2:c.7405+776G>A XP_011510645.1:n.7405+776G>A
XM_011512347.2:c.7543+776G>A XP_011510649.1:n.7543+776G>A
XM_011512348.2:c.7030+776G>A XP_011510650.1:n.7030+776G>A
XM_011512354.2:c.5254+776G>A XP_011510656.1:n.5254+776G>A
XM_017005565.1:c.6373+776G>A XP_016861054.1:n.6373+776G>A
XR_001739986.1:n.7162+776G>A
NM_199420.4:c.7543+776G>A MANE Select NP_955452.3:n.7543+776G>A
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