Canonical Allele Identifier: CA10636032

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 300986
• ClinVar RCV Id: RCV000401996
• dbSNP Id: rs2241546
• gnomAD v2: 10-79735271-T-C
• gnomAD v3: 10-77975513-T-C
• gnomAD v4: 10-77975513-T-C
• MyVariant Identifiers: chr10:g.79735271T>C (hg19) ; chr10:g.77975513T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77975513T>C , CM000672.2:g.77975513T>C	GRCh38
NC_000010.10:g.79735271T>C , CM000672.1:g.79735271T>C	GRCh37
NC_000010.9:g.79405277T>C	NCBI36
NG_029648.1:g.59028A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698724.1:n.1941+4628A>G
ENST00000698725.1:n.3808A>G
ENST00000698726.1:n.5368A>G
ENST00000698727.1:n.5101A>G
ENST00000698728.1:n.5717A>G
ENST00000698729.1:n.7165A>G
ENST00000698730.1:n.7263A>G
ENST00000698731.1:c.*1965A>G	ENSP00000513898.1:n.*1965A>G
ENST00000698732.1:c.*4827A>G	ENSP00000513899.1:n.*4827A>G
ENST00000698733.1:c.*5325A>G	ENSP00000513900.1:n.*5325A>G
ENST00000698734.1:c.*4311A>G	ENSP00000513901.1:n.*4311A>G
ENST00000698735.1:n.6489A>G
ENST00000698736.1:n.6902A>G
ENST00000372371.8:c.*1965A>G MANE Select	ENSP00000361446.3:n.*1965A>G
ENST00000372371.7:c.*1965A>G	ENSP00000361446.3:n.*1965A>G
ENST00000616246.4:c.472+4628A>G	ENSP00000483738.1:n.472+4628A>G
NM_007055.3:c.*1965A>G	NP_008986.2:n.*1965A>G
NM_007055.4:c.*1965A>G MANE Select	NP_008986.2:n.*1965A>G