Canonical Allele Identifier: CA377340963

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 1484863
• ClinVar RCV Id: RCV002008234
• dbSNP Id: rs890963581
• gnomAD v3: 10-78009897-A-C
• gnomAD v4: 10-78009897-A-C
• MyVariant Identifiers: chr10:g.79769655A>C (hg19) ; chr10:g.78009897A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009897A>C , CM000672.2:g.78009897A>C	GRCh38
NC_000010.10:g.79769655A>C , CM000672.1:g.79769655A>C	GRCh37
NC_000010.9:g.79439661A>C	NCBI36
NG_029648.1:g.24644T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000698728.1:n.1316T>G
ENST00000698729.1:n.2862T>G
ENST00000698730.1:n.2862T>G
ENST00000698731.1:c.1596T>G	ENSP00000513898.1:p.Ile532Met
ENST00000698732.1:c.*598T>G	ENSP00000513899.1:n.*598T>G
ENST00000698733.1:c.*924T>G	ENSP00000513900.1:n.*924T>G
ENST00000698734.1:c.1737T>G	ENSP00000513901.1:p.Ile579Met
ENST00000698735.1:n.1852T>G
ENST00000698736.1:n.1852T>G
ENST00000698737.1:n.1852T>G
ENST00000698738.1:n.1852T>G
ENST00000698739.1:n.1852T>G
ENST00000372371.8:c.1737T>G MANE Select	ENSP00000361446.3:p.Ile579Met
ENST00000372371.7:c.1737T>G	ENSP00000361446.3:p.Ile579Met
ENST00000473588.2:c.539T>G
NM_007055.3:c.1737T>G	NP_008986.2:p.Ile579Met
NM_007055.4:c.1737T>G MANE Select	NP_008986.2:p.Ile579Met