Canonical Allele Identifier: CA10629139

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 301005
• ClinVar RCV Id: RCV000351424
• dbSNP Id: rs886047278
• MyVariant Identifiers: chr10:g.79735667G>A (hg19) ; chr10:g.77975909G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77975909G>A , CM000672.2:g.77975909G>A	GRCh38
NC_000010.10:g.79735667G>A , CM000672.1:g.79735667G>A	GRCh37
NC_000010.9:g.79405673G>A	NCBI36
NG_029648.1:g.58632C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698724.1:n.1941+4232C>T
ENST00000698725.1:n.3412C>T
ENST00000698726.1:n.4972C>T
ENST00000698727.1:n.4705C>T
ENST00000698728.1:n.5321C>T
ENST00000698729.1:n.6769C>T
ENST00000698730.1:n.6867C>T
ENST00000698731.1:c.*1569C>T	ENSP00000513898.1:n.*1569C>T
ENST00000698732.1:c.*4431C>T	ENSP00000513899.1:n.*4431C>T
ENST00000698733.1:c.*4929C>T	ENSP00000513900.1:n.*4929C>T
ENST00000698734.1:c.*3915C>T	ENSP00000513901.1:n.*3915C>T
ENST00000698735.1:n.6093C>T
ENST00000698736.1:n.6506C>T
ENST00000372371.8:c.*1569C>T MANE Select	ENSP00000361446.3:n.*1569C>T
ENST00000372371.7:c.*1569C>T	ENSP00000361446.3:n.*1569C>T
ENST00000616246.4:c.472+4232C>T	ENSP00000483738.1:n.472+4232C>T
NM_007055.3:c.*1569C>T	NP_008986.2:n.*1569C>T
NM_007055.4:c.*1569C>T MANE Select	NP_008986.2:n.*1569C>T