Canonical Allele Identifier: CA377340982
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78009905C>A , CM000672.2:g.78009905C>A GRCh38
NC_000010.10:g.79769663C>A , CM000672.1:g.79769663C>A GRCh37
NC_000010.9:g.79439669C>A NCBI36
NG_029648.1:g.24636G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698728.1:n.1308G>T
ENST00000698729.1:n.2854G>T
ENST00000698730.1:n.2854G>T
ENST00000698731.1:c.1588G>T ENSP00000513898.1:p.Glu530Ter
ENST00000698732.1:c.*590G>T ENSP00000513899.1:n.*590G>T
ENST00000698733.1:c.*916G>T ENSP00000513900.1:n.*916G>T
ENST00000698734.1:c.1729G>T ENSP00000513901.1:p.Glu577Ter
ENST00000698735.1:n.1844G>T
ENST00000698736.1:n.1844G>T
ENST00000698737.1:n.1844G>T
ENST00000698738.1:n.1844G>T
ENST00000698739.1:n.1844G>T
ENST00000372371.8:c.1729G>T MANE Select ENSP00000361446.3:p.Glu577Ter
ENST00000372371.7:c.1729G>T ENSP00000361446.3:p.Glu577Ter
ENST00000473588.2:c.531G>T
NM_007055.3:c.1729G>T NP_008986.2:p.Glu577Ter
NM_007055.4:c.1729G>T MANE Select NP_008986.2:p.Glu577Ter