Canonical Allele Identifier: CA377337855
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78004724T>G , CM000672.2:g.78004724T>G GRCh38
NC_000010.10:g.79764482T>G , CM000672.1:g.79764482T>G GRCh37
NC_000010.9:g.79434488T>G NCBI36
NG_029648.1:g.29817A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698727.1:n.1299A>C
ENST00000698728.1:n.1818A>C
ENST00000698729.1:n.3364A>C
ENST00000698730.1:n.3364A>C
ENST00000698731.1:c.2098A>C ENSP00000513898.1:p.Thr700Pro
ENST00000698732.1:c.*1100A>C ENSP00000513899.1:n.*1100A>C
ENST00000698733.1:c.*1426A>C ENSP00000513900.1:n.*1426A>C
ENST00000698734.1:c.2239A>C ENSP00000513901.1:p.Thr747Pro
ENST00000698735.1:n.2354A>C
ENST00000698736.1:n.2354A>C
ENST00000698737.1:n.2354A>C
ENST00000698738.1:n.2354A>C
ENST00000698739.1:n.2354A>C
ENST00000372371.8:c.2239A>C MANE Select ENSP00000361446.3:p.Thr747Pro
ENST00000372371.7:c.2239A>C ENSP00000361446.3:p.Thr747Pro
ENST00000472014.5:n.461A>C
ENST00000473588.2:c.902A>C
NM_007055.3:c.2239A>C NP_008986.2:p.Thr747Pro
NM_007055.4:c.2239A>C MANE Select NP_008986.2:p.Thr747Pro