Canonical Allele Identifier: CA5571212

Gene: POLR3A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78004863G>A , CM000672.2:g.78004863G>A	GRCh38
NC_000010.10:g.79764621G>A , CM000672.1:g.79764621G>A	GRCh37
NC_000010.9:g.79434627G>A	NCBI36
NG_029648.1:g.29678C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007055.4:c.2100C>T MANE Select	NP_008986.2:p.Ile700=
ENST00000372371.8:c.2100C>T MANE Select	ENSP00000361446.3:p.Ile700=
NM_007055.3:c.2100C>T	NP_008986.2:p.Ile700=
ENST00000372371.7:c.2100C>T	ENSP00000361446.3:p.Ile700=
ENST00000472014.5:n.322C>T
ENST00000473588.2:c.763C>T
ENST00000698727.1:n.1160C>T
ENST00000698728.1:n.1679C>T
ENST00000698729.1:n.3225C>T
ENST00000698730.1:n.3225C>T
ENST00000698731.1:c.1959C>T	ENSP00000513898.1:p.Ile653=
ENST00000698732.1:c.*961C>T	ENSP00000513899.1:n.*961C>T
ENST00000698733.1:c.*1287C>T	ENSP00000513900.1:n.*1287C>T
ENST00000698734.1:c.2100C>T	ENSP00000513901.1:p.Ile700=
ENST00000698735.1:n.2215C>T
ENST00000698736.1:n.2215C>T
ENST00000698737.1:n.2215C>T
ENST00000698738.1:n.2215C>T
ENST00000698739.1:n.2215C>T