Canonical Allele Identifier: CA277108
Gene: POLR3B HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.106504155A>G
GRCh37 chr12:g.106897933A>G
Revel Score:
ENST00000228347 (MANE Select) 0.918
ENST00000539066 0.918
gnomAD v2:
12:106897933 A / G
gnomAD v3:
12:106504155 A / G
gnomAD v4:
chr12-106504155-A-G
Joint Max Group AF 0.00008996 (AMR)
Exomes Max Group AF 0.00010427 (AMR)
ClinVar RCV:
RCV000193260
RCV001853102
ClinVar Variation:
211934
dbSNP:
751459271
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.106504155A>G , CM000674.2:g.106504155A>G GRCh38
NC_000012.11:g.106897933A>G , CM000674.1:g.106897933A>G GRCh37
NC_000012.10:g.105422063A>G NCBI36
NG_031837.1:g.151498A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000228347.9:c.3173A>G MANE Select ENSP00000228347.4:p.Tyr1058Cys
ENST00000228347.8:c.3173A>G ENSP00000228347.4:p.Tyr1058Cys
ENST00000539066.5:c.2999A>G ENSP00000445721.1:p.Tyr1000Cys
NM_001160708.1:c.2999A>G NP_001154180.1:p.Tyr1000Cys
NM_018082.5:c.3173A>G NP_060552.4:p.Tyr1058Cys
NR_040246.1:n.325+3473T>C
NM_018082.6:c.3173A>G MANE Select NP_060552.4:p.Tyr1058Cys
NM_001160708.2:c.2999A>G NP_001154180.1:p.Tyr1000Cys
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