Canonical Allele Identifier: CA10632429
Gene: POLR3A HGNC NCBI

Linked Data

ClinVar Variation Id: 301070
ClinVar RCV Id: RCV000402047
dbSNP Id: rs886047289

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78009985T>C , CM000672.2:g.78009985T>C GRCh38
NC_000010.10:g.79769743T>C , CM000672.1:g.79769743T>C GRCh37
NC_000010.9:g.79439749T>C NCBI36
NG_029648.1:g.24556A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000698728.1:n.1228A>G
ENST00000698729.1:n.2774A>G
ENST00000698730.1:n.2774A>G
ENST00000698731.1:c.1508A>G ENSP00000513898.1:p.Tyr503Cys
ENST00000698732.1:c.*510A>G ENSP00000513899.1:n.*510A>G
ENST00000698733.1:c.*836A>G ENSP00000513900.1:n.*836A>G
ENST00000698734.1:c.1649A>G ENSP00000513901.1:p.Tyr550Cys
ENST00000698735.1:n.1764A>G
ENST00000698736.1:n.1764A>G
ENST00000698737.1:n.1764A>G
ENST00000698738.1:n.1764A>G
ENST00000698739.1:n.1764A>G
ENST00000372371.8:c.1649A>G MANE Select ENSP00000361446.3:p.Tyr550Cys
ENST00000372371.7:c.1649A>G ENSP00000361446.3:p.Tyr550Cys
ENST00000473588.2:c.451A>G
NM_007055.3:c.1649A>G NP_008986.2:p.Tyr550Cys
NM_007055.4:c.1649A>G MANE Select NP_008986.2:p.Tyr550Cys