Canonical Allele Identifier: CA2788643731

Gene: POLR3A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77999882G>C , CM000672.2:g.77999882G>C	GRCh38
NC_000010.10:g.79759640G>C , CM000672.1:g.79759640G>C	GRCh37
NC_000010.9:g.79429646G>C	NCBI36
NG_029648.1:g.34659C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1676+99C>G
ENST00000698728.1:n.2195+99C>G
ENST00000698729.1:n.3741+99C>G
ENST00000698730.1:n.3741+99C>G
ENST00000698731.1:c.2475+99C>G	ENSP00000513898.1:n.2475+99C>G
ENST00000698732.1:c.*1477+99C>G	ENSP00000513899.1:n.*1477+99C>G
ENST00000698733.1:c.*1803+99C>G	ENSP00000513900.1:n.*1803+99C>G
ENST00000698734.1:c.2616+99C>G	ENSP00000513901.1:n.2616+99C>G
ENST00000698735.1:n.2731+99C>G
ENST00000698736.1:n.2731+99C>G
ENST00000698737.1:n.2731+99C>G
ENST00000698738.1:n.2731+99C>G
ENST00000698739.1:n.2731+99C>G
ENST00000372371.8:c.2616+99C>G MANE Select	ENSP00000361446.3:n.2616+99C>G
ENST00000372371.7:c.2616+99C>G	ENSP00000361446.3:n.2616+99C>G
ENST00000472014.5:n.469+4834C>G
NM_007055.3:c.2616+99C>G	NP_008986.2:n.2616+99C>G
NM_007055.4:c.2616+99C>G MANE Select	NP_008986.2:n.2616+99C>G