Canonical Allele Identifier: CA377335395
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.77999980C>G , CM000672.2:g.77999980C>G GRCh38
NC_000010.10:g.79759738C>G , CM000672.1:g.79759738C>G GRCh37
NC_000010.9:g.79429744C>G NCBI36
NG_029648.1:g.34561G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698727.1:n.1676+1G>C
ENST00000698728.1:n.2195+1G>C
ENST00000698729.1:n.3741+1G>C
ENST00000698730.1:n.3741+1G>C
ENST00000698731.1:c.2475+1G>C ENSP00000513898.1:n.2475+1G>C
ENST00000698732.1:c.*1477+1G>C ENSP00000513899.1:n.*1477+1G>C
ENST00000698733.1:c.*1803+1G>C ENSP00000513900.1:n.*1803+1G>C
ENST00000698734.1:c.2616+1G>C ENSP00000513901.1:n.2616+1G>C
ENST00000698735.1:n.2731+1G>C
ENST00000698736.1:n.2731+1G>C
ENST00000698737.1:n.2731+1G>C
ENST00000698738.1:n.2731+1G>C
ENST00000698739.1:n.2731+1G>C
ENST00000372371.8:c.2616+1G>C MANE Select ENSP00000361446.3:n.2616+1G>C
ENST00000372371.7:c.2616+1G>C ENSP00000361446.3:n.2616+1G>C
ENST00000472014.5:n.469+4736G>C
NM_007055.3:c.2616+1G>C NP_008986.2:n.2616+1G>C
NM_007055.4:c.2616+1G>C MANE Select NP_008986.2:n.2616+1G>C