Canonical Allele Identifier: CA12927787
Gene: POLB HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.42338923C>T
GRCh37 chr8:g.42196441C>T
gnomAD v2:
8:42196441 C / T
gnomAD v3:
8:42338923 C / T
gnomAD v4:
chr8-42338923-C-T
Joint Max Group AF 0.8869845 (NFE)
Genomes Max Group AF 0.88208564 (NFE)
Exomes Max Group AF 0.8962862 (AMR)
dbSNP:
3136717
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42338923C>T , CM000670.2:g.42338923C>T GRCh38
NC_000008.10:g.42196441C>T , CM000670.1:g.42196441C>T GRCh37
NC_000008.9:g.42315598C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265421.9:c.62-89C>T MANE Select ENSP00000265421.4:n.62-89C>T
ENST00000265421.8:c.62-89C>T ENSP00000265421.4:n.62-89C>T
ENST00000518925.5:c.62-89C>T ENSP00000430784.1:n.62-89C>T
ENST00000519094.5:n.193-89C>T
ENST00000519771.5:c.62-89C>T ENSP00000427799.1:n.62-89C>T
ENST00000520008.5:c.-344+238C>T ENSP00000430610.1:n.-344+238C>T
ENST00000522297.1:n.193-89C>T
ENST00000522610.5:c.62-89C>T ENSP00000429436.1:n.62-89C>T
ENST00000530566.1:n.135+295C>T
ENST00000532157.5:c.-329+238C>T ENSP00000432084.1:n.-329+238C>T
NM_002690.2:c.62-89C>T NP_002681.1:n.62-89C>T
XM_005273535.2:c.62-89C>T XP_005273592.1:n.62-89C>T
XM_005273536.2:c.62-89C>T XP_005273593.1:n.62-89C>T
XM_005273537.2:c.62-89C>T XP_005273594.1:n.62-89C>T
XM_005273538.2:c.-329+238C>T XP_005273595.1:n.-329+238C>T
XM_005273539.2:c.-344+238C>T XP_005273596.1:n.-344+238C>T
XM_005273540.3:c.-160+238C>T XP_005273597.1:n.-160+238C>T
XM_006716353.2:c.-217-89C>T XP_006716416.1:n.-217-89C>T
XR_428311.1:n.196-89C>T
XM_005273535.4:c.62-89C>T XP_005273592.1:n.62-89C>T
XM_005273536.4:c.62-89C>T XP_005273593.1:n.62-89C>T
XM_005273537.4:c.62-89C>T XP_005273594.1:n.62-89C>T
XM_005273540.4:c.-160+238C>T XP_005273597.1:n.-160+238C>T
XM_017013583.1:c.-195+238C>T XP_016869072.1:n.-195+238C>T
XM_017013584.1:c.-210+238C>T XP_016869073.1:n.-210+238C>T
XR_001745544.2:n.196-89C>T
XR_428311.3:n.196-89C>T
NM_002690.3:c.62-89C>T MANE Select NP_002681.1:n.62-89C>T
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