Canonical Allele Identifier: CA377337915
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78004737G>C , CM000672.2:g.78004737G>C GRCh38
NC_000010.10:g.79764495G>C , CM000672.1:g.79764495G>C GRCh37
NC_000010.9:g.79434501G>C NCBI36
NG_029648.1:g.29804C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698727.1:n.1286C>G
ENST00000698728.1:n.1805C>G
ENST00000698729.1:n.3351C>G
ENST00000698730.1:n.3351C>G
ENST00000698731.1:c.2085C>G ENSP00000513898.1:p.Cys695Trp
ENST00000698732.1:c.*1087C>G ENSP00000513899.1:n.*1087C>G
ENST00000698733.1:c.*1413C>G ENSP00000513900.1:n.*1413C>G
ENST00000698734.1:c.2226C>G ENSP00000513901.1:p.Cys742Trp
ENST00000698735.1:n.2341C>G
ENST00000698736.1:n.2341C>G
ENST00000698737.1:n.2341C>G
ENST00000698738.1:n.2341C>G
ENST00000698739.1:n.2341C>G
ENST00000372371.8:c.2226C>G MANE Select ENSP00000361446.3:p.Cys742Trp
ENST00000372371.7:c.2226C>G ENSP00000361446.3:p.Cys742Trp
ENST00000472014.5:n.448C>G
ENST00000473588.2:c.889C>G
NM_007055.3:c.2226C>G NP_008986.2:p.Cys742Trp
NM_007055.4:c.2226C>G MANE Select NP_008986.2:p.Cys742Trp