Canonical Allele Identifier: CA5570767

Gene: POLR3A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77982316C>A , CM000672.2:g.77982316C>A	GRCh38
NC_000010.10:g.79742074C>A , CM000672.1:g.79742074C>A	GRCh37
NC_000010.9:g.79412080C>A	NCBI36
NG_029648.1:g.52225G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698724.1:n.1514G>T
ENST00000698726.1:n.2827G>T
ENST00000698727.1:n.2560G>T
ENST00000698728.1:n.3176G>T
ENST00000698729.1:n.4624G>T
ENST00000698730.1:n.4722G>T
ENST00000698731.1:c.3456G>T	ENSP00000513898.1:p.Val1152=
ENST00000698732.1:c.*2360G>T	ENSP00000513899.1:n.*2360G>T
ENST00000698733.1:c.*2784G>T	ENSP00000513900.1:n.*2784G>T
ENST00000698734.1:c.*1770G>T	ENSP00000513901.1:n.*1770G>T
ENST00000698735.1:n.3948G>T
ENST00000698736.1:n.4361G>T
ENST00000698737.1:n.3712G>T
ENST00000372371.8:c.3597G>T MANE Select	ENSP00000361446.3:p.Val1199=
ENST00000372371.7:c.3597G>T	ENSP00000361446.3:p.Val1199=
ENST00000616246.4:c.45G>T	ENSP00000483738.1:p.Val15=
NM_007055.3:c.3597G>T	NP_008986.2:p.Val1199=
NM_007055.4:c.3597G>T MANE Select	NP_008986.2:p.Val1199=