Canonical Allele Identifier: CA5570748

Gene: POLR3A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77982215C>T , CM000672.2:g.77982215C>T	GRCh38
NC_000010.10:g.79741973C>T , CM000672.1:g.79741973C>T	GRCh37
NC_000010.9:g.79411979C>T	NCBI36
NG_029648.1:g.52326G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007055.4:c.3698G>A MANE Select	NP_008986.2:p.Arg1233Gln
ENST00000372371.8:c.3698G>A MANE Select	ENSP00000361446.3:p.Arg1233Gln
NM_007055.3:c.3698G>A	NP_008986.2:p.Arg1233Gln
ENST00000372371.7:c.3698G>A	ENSP00000361446.3:p.Arg1233Gln
ENST00000616246.4:c.146G>A	ENSP00000483738.1:p.Arg49Gln
ENST00000698724.1:n.1615G>A
ENST00000698726.1:n.2928G>A
ENST00000698727.1:n.2661G>A
ENST00000698728.1:n.3277G>A
ENST00000698729.1:n.4725G>A
ENST00000698730.1:n.4823G>A
ENST00000698731.1:c.3557G>A	ENSP00000513898.1:p.Arg1186Gln
ENST00000698732.1:c.*2448+13G>A	ENSP00000513899.1:n.*2448+13G>A
ENST00000698733.1:c.*2885G>A	ENSP00000513900.1:n.*2885G>A
ENST00000698734.1:c.*1871G>A	ENSP00000513901.1:n.*1871G>A
ENST00000698735.1:n.4049G>A
ENST00000698736.1:n.4462G>A
ENST00000698737.1:n.3813G>A