Canonical Allele Identifier: CA5570950

Gene: POLR3A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77985977C>A , CM000672.2:g.77985977C>A	GRCh38
NC_000010.10:g.79745735C>A , CM000672.1:g.79745735C>A	GRCh37
NC_000010.9:g.79415741C>A	NCBI36
NG_029648.1:g.48564G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698724.1:n.352G>T
ENST00000698726.1:n.2227G>T
ENST00000698727.1:n.2053G>T
ENST00000698728.1:n.2576G>T
ENST00000698729.1:n.4122G>T
ENST00000698730.1:n.4122G>T
ENST00000698731.1:c.2856G>T	ENSP00000513898.1:p.Val952=
ENST00000698732.1:c.*1858G>T	ENSP00000513899.1:n.*1858G>T
ENST00000698733.1:c.*2184G>T	ENSP00000513900.1:n.*2184G>T
ENST00000698734.1:c.*608G>T	ENSP00000513901.1:n.*608G>T
ENST00000698735.1:n.3112G>T
ENST00000698736.1:n.3199G>T
ENST00000698737.1:n.3112G>T
ENST00000372371.8:c.2997G>T MANE Select	ENSP00000361446.3:p.Val999=
ENST00000372371.7:c.2997G>T	ENSP00000361446.3:p.Val999=
NM_007055.3:c.2997G>T	NP_008986.2:p.Val999=
NM_007055.4:c.2997G>T MANE Select	NP_008986.2:p.Val999=