Canonical Allele Identifier: CA210210801

Gene: POLR3A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009539G>C , CM000672.2:g.78009539G>C	GRCh38
NC_000010.10:g.79769297G>C , CM000672.1:g.79769297G>C	GRCh37
NC_000010.9:g.79439303G>C	NCBI36
NG_029648.1:g.25002C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007055.4:c.1907C>G MANE Select	NP_008986.2:p.Ser636Cys
ENST00000372371.8:c.1907C>G MANE Select	ENSP00000361446.3:p.Ser636Cys
NM_007055.3:c.1907C>G	NP_008986.2:p.Ser636Cys
ENST00000372371.7:c.1907C>G	ENSP00000361446.3:p.Ser636Cys
ENST00000472014.5:n.129C>G
ENST00000473588.2:c.572+325C>G
ENST00000698728.1:n.1486C>G
ENST00000698729.1:n.3032C>G
ENST00000698730.1:n.3032C>G
ENST00000698731.1:c.1766C>G	ENSP00000513898.1:p.Ser589Cys
ENST00000698732.1:c.*768C>G	ENSP00000513899.1:n.*768C>G
ENST00000698733.1:c.*1094C>G	ENSP00000513900.1:n.*1094C>G
ENST00000698734.1:c.1907C>G	ENSP00000513901.1:p.Ser636Cys
ENST00000698735.1:n.2022C>G
ENST00000698736.1:n.2022C>G
ENST00000698737.1:n.2022C>G
ENST00000698738.1:n.2022C>G
ENST00000698739.1:n.2022C>G