Canonical Allele Identifier: CA377337029
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78002244A>C , CM000672.2:g.78002244A>C GRCh38
NC_000010.10:g.79762002A>C , CM000672.1:g.79762002A>C GRCh37
NC_000010.9:g.79432008A>C NCBI36
NG_029648.1:g.32297T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698727.1:n.1372T>G
ENST00000698728.1:n.1891T>G
ENST00000698729.1:n.3437T>G
ENST00000698730.1:n.3437T>G
ENST00000698731.1:c.2171T>G ENSP00000513898.1:p.Leu724Arg
ENST00000698732.1:c.*1173T>G ENSP00000513899.1:n.*1173T>G
ENST00000698733.1:c.*1499T>G ENSP00000513900.1:n.*1499T>G
ENST00000698734.1:c.2312T>G ENSP00000513901.1:p.Leu771Arg
ENST00000698735.1:n.2427T>G
ENST00000698736.1:n.2427T>G
ENST00000698737.1:n.2427T>G
ENST00000698738.1:n.2427T>G
ENST00000698739.1:n.2427T>G
ENST00000372371.8:c.2312T>G MANE Select ENSP00000361446.3:p.Leu771Arg
ENST00000372371.7:c.2312T>G ENSP00000361446.3:p.Leu771Arg
ENST00000472014.5:n.469+2472T>G
ENST00000473588.2:c.975T>G
NM_007055.3:c.2312T>G NP_008986.2:p.Leu771Arg
NM_007055.4:c.2312T>G MANE Select NP_008986.2:p.Leu771Arg