Canonical Allele Identifier: CA377326104
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.77980222C>G , CM000672.2:g.77980222C>G GRCh38
NC_000010.10:g.79739980C>G , CM000672.1:g.79739980C>G GRCh37
NC_000010.9:g.79409986C>G NCBI36
NG_029648.1:g.54319G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698724.1:n.1860G>C
ENST00000698725.1:n.1613G>C
ENST00000698726.1:n.3173G>C
ENST00000698727.1:n.2906G>C
ENST00000698728.1:n.3522G>C
ENST00000698729.1:n.4970G>C
ENST00000698730.1:n.5068G>C
ENST00000698731.1:c.3802G>C ENSP00000513898.1:p.Val1268Leu
ENST00000698732.1:c.*2632G>C ENSP00000513899.1:n.*2632G>C
ENST00000698733.1:c.*3130G>C ENSP00000513900.1:n.*3130G>C
ENST00000698734.1:c.*2116G>C ENSP00000513901.1:n.*2116G>C
ENST00000698735.1:n.4294G>C
ENST00000698736.1:n.4707G>C
ENST00000698737.1:n.4058G>C
ENST00000372371.8:c.3943G>C MANE Select ENSP00000361446.3:p.Val1315Leu
ENST00000372371.7:c.3943G>C ENSP00000361446.3:p.Val1315Leu
ENST00000616246.4:c.391G>C ENSP00000483738.1:p.Val131Leu
NM_007055.3:c.3943G>C NP_008986.2:p.Val1315Leu
NM_007055.4:c.3943G>C MANE Select NP_008986.2:p.Val1315Leu