Canonical Allele Identifier: CA2609822076

Gene: POLR3A

Linked Data

• gnomAD v4: 10-78000052-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78000053dup , CM000672.2:g.78000053dup	GRCh38
NC_000010.10:g.79759811dup , CM000672.1:g.79759811dup	GRCh37
NC_000010.9:g.79429817dup	NCBI36
NG_029648.1:g.34488dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000698727.1:n.1604dup
ENST00000698728.1:n.2123dup
ENST00000698729.1:n.3669dup
ENST00000698730.1:n.3669dup
ENST00000698731.1:c.2403dup	ENSP00000513898.1:p.Phe802LeufsTer19
ENST00000698732.1:c.*1405dup	ENSP00000513899.1:n.*1405dup
ENST00000698733.1:c.*1731dup	ENSP00000513900.1:n.*1731dup
ENST00000698734.1:c.2544dup	ENSP00000513901.1:p.Phe849LeufsTer19
ENST00000698735.1:n.2659dup
ENST00000698736.1:n.2659dup
ENST00000698737.1:n.2659dup
ENST00000698738.1:n.2659dup
ENST00000698739.1:n.2659dup
ENST00000372371.8:c.2544dup MANE Select	ENSP00000361446.3:p.Phe849LeufsTer19
ENST00000372371.7:c.2544dup	ENSP00000361446.3:p.Phe849LeufsTer19
ENST00000472014.5:n.469+4663dup
NM_007055.3:c.2544dup	NP_008986.2:p.Phe849LeufsTer19
NM_007055.4:c.2544dup MANE Select	NP_008986.2:p.Phe849LeufsTer19