Canonical Allele Identifier: CA5571268

Gene: POLR3A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78007846C>T , CM000672.2:g.78007846C>T	GRCh38
NC_000010.10:g.79767604C>T , CM000672.1:g.79767604C>T	GRCh37
NC_000010.9:g.79437610C>T	NCBI36
NG_029648.1:g.26695G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007055.4:c.1930G>A MANE Select	NP_008986.2:p.Glu644Lys
ENST00000372371.8:c.1930G>A MANE Select	ENSP00000361446.3:p.Glu644Lys
NM_007055.3:c.1930G>A	NP_008986.2:p.Glu644Lys
ENST00000372371.7:c.1930G>A	ENSP00000361446.3:p.Glu644Lys
ENST00000472014.5:n.152G>A
ENST00000473588.2:c.593G>A
ENST00000698727.1:n.990G>A
ENST00000698728.1:n.1509G>A
ENST00000698729.1:n.3055G>A
ENST00000698730.1:n.3055G>A
ENST00000698731.1:c.1789G>A	ENSP00000513898.1:p.Glu597Lys
ENST00000698732.1:c.*791G>A	ENSP00000513899.1:n.*791G>A
ENST00000698733.1:c.*1117G>A	ENSP00000513900.1:n.*1117G>A
ENST00000698734.1:c.1930G>A	ENSP00000513901.1:p.Glu644Lys
ENST00000698735.1:n.2045G>A
ENST00000698736.1:n.2045G>A
ENST00000698737.1:n.2045G>A
ENST00000698738.1:n.2045G>A
ENST00000698739.1:n.2045G>A