Canonical Allele Identifier: CA5570631

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 549570
• ClinVar RCV Id: RCV000754392 ; RCV003488781
• dbSNP Id: rs768222183
• ExAC: 10:79739920 C / T
• gnomAD v2: 10-79739920-C-T
• gnomAD v4: 10-77980162-C-T
• MyVariant Identifiers: chr10:g.79739920C>T (hg19) ; chr10:g.77980162C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77980162C>T , CM000672.2:g.77980162C>T	GRCh38
NC_000010.10:g.79739920C>T , CM000672.1:g.79739920C>T	GRCh37
NC_000010.9:g.79409926C>T	NCBI36
NG_029648.1:g.54379G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698724.1:n.1920G>A
ENST00000698725.1:n.1673G>A
ENST00000698726.1:n.3233G>A
ENST00000698727.1:n.2966G>A
ENST00000698728.1:n.3582G>A
ENST00000698729.1:n.5030G>A
ENST00000698730.1:n.5128G>A
ENST00000698731.1:c.3862G>A	ENSP00000513898.1:p.Gly1288Arg
ENST00000698732.1:c.*2692G>A	ENSP00000513899.1:n.*2692G>A
ENST00000698733.1:c.*3190G>A	ENSP00000513900.1:n.*3190G>A
ENST00000698734.1:c.*2176G>A	ENSP00000513901.1:n.*2176G>A
ENST00000698735.1:n.4354G>A
ENST00000698736.1:n.4767G>A
ENST00000698737.1:n.4118G>A
ENST00000372371.8:c.4003G>A MANE Select	ENSP00000361446.3:p.Gly1335Arg
ENST00000372371.7:c.4003G>A	ENSP00000361446.3:p.Gly1335Arg
ENST00000616246.4:c.451G>A	ENSP00000483738.1:p.Gly151Arg
NM_007055.3:c.4003G>A	NP_008986.2:p.Gly1335Arg
NM_007055.4:c.4003G>A MANE Select	NP_008986.2:p.Gly1335Arg