Canonical Allele Identifier: CA2840887482
Gene: POLR3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.77976011T>C , CM000672.2:g.77976011T>C GRCh38
NC_000010.10:g.79735769T>C , CM000672.1:g.79735769T>C GRCh37
NC_000010.9:g.79405775T>C NCBI36
NG_029648.1:g.58530A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698724.1:n.1941+4130A>G
ENST00000698725.1:n.3310A>G
ENST00000698726.1:n.4870A>G
ENST00000698727.1:n.4603A>G
ENST00000698728.1:n.5219A>G
ENST00000698729.1:n.6667A>G
ENST00000698730.1:n.6765A>G
ENST00000698731.1:c.*1467A>G ENSP00000513898.1:n.*1467A>G
ENST00000698732.1:c.*4329A>G ENSP00000513899.1:n.*4329A>G
ENST00000698733.1:c.*4827A>G ENSP00000513900.1:n.*4827A>G
ENST00000698734.1:c.*3813A>G ENSP00000513901.1:n.*3813A>G
ENST00000698735.1:n.5991A>G
ENST00000698736.1:n.6404A>G
ENST00000372371.8:c.*1467A>G MANE Select ENSP00000361446.3:n.*1467A>G
ENST00000372371.7:c.*1467A>G ENSP00000361446.3:n.*1467A>G
ENST00000616246.4:c.472+4130A>G ENSP00000483738.1:n.472+4130A>G
NM_007055.3:c.*1467A>G NP_008986.2:n.*1467A>G
NM_007055.4:c.*1467A>G MANE Select NP_008986.2:n.*1467A>G