Canonical Allele Identifier: CA5571353

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 1143246
• ClinVar RCV Id: RCV001481352 ; RCV004533845
• dbSNP Id: rs151084236
• ExAC: 10:79769663 C / T
• gnomAD v2: 10-79769663-C-T
• gnomAD v3: 10-78009905-C-T
• gnomAD v4: 10-78009905-C-T
• MyVariant Identifiers: chr10:g.79769663C>T (hg19) ; chr10:g.78009905C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009905C>T , CM000672.2:g.78009905C>T	GRCh38
NC_000010.10:g.79769663C>T , CM000672.1:g.79769663C>T	GRCh37
NC_000010.9:g.79439669C>T	NCBI36
NG_029648.1:g.24636G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698728.1:n.1308G>A
ENST00000698729.1:n.2854G>A
ENST00000698730.1:n.2854G>A
ENST00000698731.1:c.1588G>A	ENSP00000513898.1:p.Glu530Lys
ENST00000698732.1:c.*590G>A	ENSP00000513899.1:n.*590G>A
ENST00000698733.1:c.*916G>A	ENSP00000513900.1:n.*916G>A
ENST00000698734.1:c.1729G>A	ENSP00000513901.1:p.Glu577Lys
ENST00000698735.1:n.1844G>A
ENST00000698736.1:n.1844G>A
ENST00000698737.1:n.1844G>A
ENST00000698738.1:n.1844G>A
ENST00000698739.1:n.1844G>A
ENST00000372371.8:c.1729G>A MANE Select	ENSP00000361446.3:p.Glu577Lys
ENST00000372371.7:c.1729G>A	ENSP00000361446.3:p.Glu577Lys
ENST00000473588.2:c.531G>A
NM_007055.3:c.1729G>A	NP_008986.2:p.Glu577Lys
NM_007055.4:c.1729G>A MANE Select	NP_008986.2:p.Glu577Lys