Canonical Allele Identifier: CA377326099
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.77980219G>T , CM000672.2:g.77980219G>T GRCh38
NC_000010.10:g.79739977G>T , CM000672.1:g.79739977G>T GRCh37
NC_000010.9:g.79409983G>T NCBI36
NG_029648.1:g.54322C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698724.1:n.1863C>A
ENST00000698725.1:n.1616C>A
ENST00000698726.1:n.3176C>A
ENST00000698727.1:n.2909C>A
ENST00000698728.1:n.3525C>A
ENST00000698729.1:n.4973C>A
ENST00000698730.1:n.5071C>A
ENST00000698731.1:c.3805C>A ENSP00000513898.1:p.Leu1269Met
ENST00000698732.1:c.*2635C>A ENSP00000513899.1:n.*2635C>A
ENST00000698733.1:c.*3133C>A ENSP00000513900.1:n.*3133C>A
ENST00000698734.1:c.*2119C>A ENSP00000513901.1:n.*2119C>A
ENST00000698735.1:n.4297C>A
ENST00000698736.1:n.4710C>A
ENST00000698737.1:n.4061C>A
ENST00000372371.8:c.3946C>A MANE Select ENSP00000361446.3:p.Leu1316Met
ENST00000372371.7:c.3946C>A ENSP00000361446.3:p.Leu1316Met
ENST00000616246.4:c.394C>A ENSP00000483738.1:p.Leu132Met
NM_007055.3:c.3946C>A NP_008986.2:p.Leu1316Met
NM_007055.4:c.3946C>A MANE Select NP_008986.2:p.Leu1316Met