Canonical Allele Identifier: CA2838317969
Gene: POLR3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.77975942C>G , CM000672.2:g.77975942C>G GRCh38
NC_000010.10:g.79735700C>G , CM000672.1:g.79735700C>G GRCh37
NC_000010.9:g.79405706C>G NCBI36
NG_029648.1:g.58599G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698724.1:n.1941+4199G>C
ENST00000698725.1:n.3379G>C
ENST00000698726.1:n.4939G>C
ENST00000698727.1:n.4672G>C
ENST00000698728.1:n.5288G>C
ENST00000698729.1:n.6736G>C
ENST00000698730.1:n.6834G>C
ENST00000698731.1:c.*1536G>C ENSP00000513898.1:n.*1536G>C
ENST00000698732.1:c.*4398G>C ENSP00000513899.1:n.*4398G>C
ENST00000698733.1:c.*4896G>C ENSP00000513900.1:n.*4896G>C
ENST00000698734.1:c.*3882G>C ENSP00000513901.1:n.*3882G>C
ENST00000698735.1:n.6060G>C
ENST00000698736.1:n.6473G>C
ENST00000372371.8:c.*1536G>C MANE Select ENSP00000361446.3:n.*1536G>C
ENST00000372371.7:c.*1536G>C ENSP00000361446.3:n.*1536G>C
ENST00000616246.4:c.472+4199G>C ENSP00000483738.1:n.472+4199G>C
NM_007055.3:c.*1536G>C NP_008986.2:n.*1536G>C
NM_007055.4:c.*1536G>C MANE Select NP_008986.2:n.*1536G>C