Canonical Allele Identifier: CA2609821864

Gene: POLR3A

Linked Data

• gnomAD v4: 10-77999853-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77999853T>C , CM000672.2:g.77999853T>C	GRCh38
NC_000010.10:g.79759611T>C , CM000672.1:g.79759611T>C	GRCh37
NC_000010.9:g.79429617T>C	NCBI36
NG_029648.1:g.34688A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1676+128A>G
ENST00000698728.1:n.2195+128A>G
ENST00000698729.1:n.3741+128A>G
ENST00000698730.1:n.3741+128A>G
ENST00000698731.1:c.2475+128A>G	ENSP00000513898.1:n.2475+128A>G
ENST00000698732.1:c.*1477+128A>G	ENSP00000513899.1:n.*1477+128A>G
ENST00000698733.1:c.*1803+128A>G	ENSP00000513900.1:n.*1803+128A>G
ENST00000698734.1:c.2616+128A>G	ENSP00000513901.1:n.2616+128A>G
ENST00000698735.1:n.2731+128A>G
ENST00000698736.1:n.2731+128A>G
ENST00000698737.1:n.2731+128A>G
ENST00000698738.1:n.2731+128A>G
ENST00000698739.1:n.2731+128A>G
ENST00000372371.8:c.2616+128A>G MANE Select	ENSP00000361446.3:n.2616+128A>G
ENST00000372371.7:c.2616+128A>G	ENSP00000361446.3:n.2616+128A>G
ENST00000472014.5:n.469+4863A>G
NM_007055.3:c.2616+128A>G	NP_008986.2:n.2616+128A>G
NM_007055.4:c.2616+128A>G MANE Select	NP_008986.2:n.2616+128A>G