Canonical Allele Identifier: CA2574591702
Gene: POLR3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78002157G>T , CM000672.2:g.78002157G>T GRCh38
NC_000010.10:g.79761915G>T , CM000672.1:g.79761915G>T GRCh37
NC_000010.9:g.79431921G>T NCBI36
NG_029648.1:g.32384C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698727.1:n.1419+40C>A
ENST00000698728.1:n.1938+40C>A
ENST00000698729.1:n.3484+40C>A
ENST00000698730.1:n.3484+40C>A
ENST00000698731.1:c.2218+40C>A ENSP00000513898.1:n.2218+40C>A
ENST00000698732.1:c.*1220+40C>A ENSP00000513899.1:n.*1220+40C>A
ENST00000698733.1:c.*1546+40C>A ENSP00000513900.1:n.*1546+40C>A
ENST00000698734.1:c.2359+40C>A ENSP00000513901.1:n.2359+40C>A
ENST00000698735.1:n.2474+40C>A
ENST00000698736.1:n.2474+40C>A
ENST00000698737.1:n.2474+40C>A
ENST00000698738.1:n.2474+40C>A
ENST00000698739.1:n.2474+40C>A
ENST00000372371.8:c.2359+40C>A MANE Select ENSP00000361446.3:n.2359+40C>A
ENST00000372371.7:c.2359+40C>A ENSP00000361446.3:n.2359+40C>A
ENST00000472014.5:n.469+2559C>A
NM_007055.3:c.2359+40C>A NP_008986.2:n.2359+40C>A
NM_007055.4:c.2359+40C>A MANE Select NP_008986.2:n.2359+40C>A