Canonical Allele Identifier: CA10636083

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 301069
• ClinVar RCV Id: RCV000345415
• dbSNP Id: rs886047288
• MyVariant Identifiers: chr10:g.79769709T>C (hg19) ; chr10:g.78009951T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009951T>C , CM000672.2:g.78009951T>C	GRCh38
NC_000010.10:g.79769709T>C , CM000672.1:g.79769709T>C	GRCh37
NC_000010.9:g.79439715T>C	NCBI36
NG_029648.1:g.24590A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698728.1:n.1262A>G
ENST00000698729.1:n.2808A>G
ENST00000698730.1:n.2808A>G
ENST00000698731.1:c.1542A>G	ENSP00000513898.1:p.Arg514=
ENST00000698732.1:c.*544A>G	ENSP00000513899.1:n.*544A>G
ENST00000698733.1:c.*870A>G	ENSP00000513900.1:n.*870A>G
ENST00000698734.1:c.1683A>G	ENSP00000513901.1:p.Arg561=
ENST00000698735.1:n.1798A>G
ENST00000698736.1:n.1798A>G
ENST00000698737.1:n.1798A>G
ENST00000698738.1:n.1798A>G
ENST00000698739.1:n.1798A>G
ENST00000372371.8:c.1683A>G MANE Select	ENSP00000361446.3:p.Arg561=
ENST00000372371.7:c.1683A>G	ENSP00000361446.3:p.Arg561=
ENST00000473588.2:c.485A>G
NM_007055.3:c.1683A>G	NP_008986.2:p.Arg561=
NM_007055.4:c.1683A>G MANE Select	NP_008986.2:p.Arg561=