Canonical Allele Identifier: CA10603222

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 280111
• ClinVar RCV Id: RCV000292592 ; RCV001541986
• dbSNP Id: rs781745727
• gnomAD v3: 10-78009893-C-CT
• gnomAD v4: 10-78009893-C-CT
• MyVariant Identifiers: chr10:g.79769652dupT (hg19) ; chr10:g.79769651_79769652insT (hg19) ; chr10:g.78009894dupT (hg38) ; chr10:g.78009893_78009894insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009896dup , CM000672.2:g.78009896dup	GRCh38
NC_000010.10:g.79769654dup , CM000672.1:g.79769654dup	GRCh37
NC_000010.9:g.79439660dup	NCBI36
NG_029648.1:g.24647dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000698728.1:n.1319dup
ENST00000698729.1:n.2865dup
ENST00000698730.1:n.2865dup
ENST00000698731.1:c.1599dup	ENSP00000513898.1:p.Val534SerfsTer28
ENST00000698732.1:c.*601dup	ENSP00000513899.1:n.*601dup
ENST00000698733.1:c.*927dup	ENSP00000513900.1:n.*927dup
ENST00000698734.1:c.1740dup	ENSP00000513901.1:p.Val581SerfsTer28
ENST00000698735.1:n.1855dup
ENST00000698736.1:n.1855dup
ENST00000698737.1:n.1855dup
ENST00000698738.1:n.1855dup
ENST00000698739.1:n.1855dup
ENST00000372371.8:c.1740dup MANE Select	ENSP00000361446.3:p.Val581SerfsTer28
ENST00000372371.7:c.1740dup	ENSP00000361446.3:p.Val581SerfsTer28
ENST00000473588.2:c.542dup
NM_007055.3:c.1740dup	NP_008986.2:p.Val581SerfsTer28
NM_007055.4:c.1740dup MANE Select	NP_008986.2:p.Val581SerfsTer28