Canonical Allele Identifier: CA5571209

Gene: POLR3A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78004844G>A , CM000672.2:g.78004844G>A	GRCh38
NC_000010.10:g.79764602G>A , CM000672.1:g.79764602G>A	GRCh37
NC_000010.9:g.79434608G>A	NCBI36
NG_029648.1:g.29697C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007055.4:c.2119C>T MANE Select	NP_008986.2:p.Gln707Ter
ENST00000372371.8:c.2119C>T MANE Select	ENSP00000361446.3:p.Gln707Ter
NM_007055.3:c.2119C>T	NP_008986.2:p.Gln707Ter
ENST00000372371.7:c.2119C>T	ENSP00000361446.3:p.Gln707Ter
ENST00000472014.5:n.341C>T
ENST00000473588.2:c.782C>T
ENST00000698727.1:n.1179C>T
ENST00000698728.1:n.1698C>T
ENST00000698729.1:n.3244C>T
ENST00000698730.1:n.3244C>T
ENST00000698731.1:c.1978C>T	ENSP00000513898.1:p.Gln660Ter
ENST00000698732.1:c.*980C>T	ENSP00000513899.1:n.*980C>T
ENST00000698733.1:c.*1306C>T	ENSP00000513900.1:n.*1306C>T
ENST00000698734.1:c.2119C>T	ENSP00000513901.1:p.Gln707Ter
ENST00000698735.1:n.2234C>T
ENST00000698736.1:n.2234C>T
ENST00000698737.1:n.2234C>T
ENST00000698738.1:n.2234C>T
ENST00000698739.1:n.2234C>T