Canonical Allele Identifier: CA2580082003

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 2104539
• ClinVar RCV Id: RCV003031429

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77999968T>G , CM000672.2:g.77999968T>G	GRCh38
NC_000010.10:g.79759726T>G , CM000672.1:g.79759726T>G	GRCh37
NC_000010.9:g.79429732T>G	NCBI36
NG_029648.1:g.34573A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1676+13A>C
ENST00000698728.1:n.2195+13A>C
ENST00000698729.1:n.3741+13A>C
ENST00000698730.1:n.3741+13A>C
ENST00000698731.1:c.2475+13A>C	ENSP00000513898.1:n.2475+13A>C
ENST00000698732.1:c.*1477+13A>C	ENSP00000513899.1:n.*1477+13A>C
ENST00000698733.1:c.*1803+13A>C	ENSP00000513900.1:n.*1803+13A>C
ENST00000698734.1:c.2616+13A>C	ENSP00000513901.1:n.2616+13A>C
ENST00000698735.1:n.2731+13A>C
ENST00000698736.1:n.2731+13A>C
ENST00000698737.1:n.2731+13A>C
ENST00000698738.1:n.2731+13A>C
ENST00000698739.1:n.2731+13A>C
ENST00000372371.8:c.2616+13A>C MANE Select	ENSP00000361446.3:n.2616+13A>C
ENST00000372371.7:c.2616+13A>C	ENSP00000361446.3:n.2616+13A>C
ENST00000472014.5:n.469+4748A>C
NM_007055.3:c.2616+13A>C	NP_008986.2:n.2616+13A>C
NM_007055.4:c.2616+13A>C MANE Select	NP_008986.2:n.2616+13A>C