Canonical Allele Identifier: CA10632338

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 300982
• ClinVar RCV Id: RCV000323395
• dbSNP Id: rs886047272
• gnomAD v2: 10-79735046-C-G
• gnomAD v3: 10-77975288-C-G
• gnomAD v4: 10-77975288-C-G
• MyVariant Identifiers: chr10:g.79735046C>G (hg19) ; chr10:g.77975288C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77975288C>G , CM000672.2:g.77975288C>G	GRCh38
NC_000010.10:g.79735046C>G , CM000672.1:g.79735046C>G	GRCh37
NC_000010.9:g.79405052C>G	NCBI36
NG_029648.1:g.59253G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698724.1:n.1941+4853G>C
ENST00000698725.1:n.4033G>C
ENST00000698726.1:n.5593G>C
ENST00000698727.1:n.5326G>C
ENST00000698728.1:n.5942G>C
ENST00000698729.1:n.7390G>C
ENST00000698730.1:n.7488G>C
ENST00000698731.1:c.*2190G>C	ENSP00000513898.1:n.*2190G>C
ENST00000698732.1:c.*5052G>C	ENSP00000513899.1:n.*5052G>C
ENST00000698733.1:c.*5550G>C	ENSP00000513900.1:n.*5550G>C
ENST00000698734.1:c.*4536G>C	ENSP00000513901.1:n.*4536G>C
ENST00000698735.1:n.6714G>C
ENST00000698736.1:n.7127G>C
ENST00000372371.8:c.*2190G>C MANE Select	ENSP00000361446.3:n.*2190G>C
ENST00000372371.7:c.*2190G>C	ENSP00000361446.3:n.*2190G>C
ENST00000616246.4:c.472+4853G>C	ENSP00000483738.1:n.472+4853G>C
NM_007055.3:c.*2190G>C	NP_008986.2:n.*2190G>C
NM_007055.4:c.*2190G>C MANE Select	NP_008986.2:n.*2190G>C