Canonical Allele Identifier: CA5570795

Gene: POLR3A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77982685C>T , CM000672.2:g.77982685C>T	GRCh38
NC_000010.10:g.79742443C>T , CM000672.1:g.79742443C>T	GRCh37
NC_000010.9:g.79412449C>T	NCBI36
NG_029648.1:g.51856G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007055.4:c.3562G>A MANE Select	NP_008986.2:p.Val1188Met
ENST00000372371.8:c.3562G>A MANE Select	ENSP00000361446.3:p.Val1188Met
NM_007055.3:c.3562G>A	NP_008986.2:p.Val1188Met
ENST00000372371.7:c.3562G>A	ENSP00000361446.3:p.Val1188Met
ENST00000616246.4:c.10G>A	ENSP00000483738.1:p.Val4Met
ENST00000698724.1:n.1479G>A
ENST00000698726.1:n.2792G>A
ENST00000698727.1:n.2525G>A
ENST00000698728.1:n.3141G>A
ENST00000698729.1:n.4589G>A
ENST00000698730.1:n.4687G>A
ENST00000698731.1:c.3421G>A	ENSP00000513898.1:p.Val1141Met
ENST00000698732.1:c.*2325G>A	ENSP00000513899.1:n.*2325G>A
ENST00000698733.1:c.*2749G>A	ENSP00000513900.1:n.*2749G>A
ENST00000698734.1:c.*1735G>A	ENSP00000513901.1:n.*1735G>A
ENST00000698735.1:n.3579G>A
ENST00000698736.1:n.4326G>A
ENST00000698737.1:n.3677G>A