Canonical Allele Identifier: CA2567460117

Gene: POLR3A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77975955C>T , CM000672.2:g.77975955C>T	GRCh38
NC_000010.10:g.79735713C>T , CM000672.1:g.79735713C>T	GRCh37
NC_000010.9:g.79405719C>T	NCBI36
NG_029648.1:g.58586G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698724.1:n.1941+4186G>A
ENST00000698725.1:n.3366G>A
ENST00000698726.1:n.4926G>A
ENST00000698727.1:n.4659G>A
ENST00000698728.1:n.5275G>A
ENST00000698729.1:n.6723G>A
ENST00000698730.1:n.6821G>A
ENST00000698731.1:c.*1523G>A	ENSP00000513898.1:n.*1523G>A
ENST00000698732.1:c.*4385G>A	ENSP00000513899.1:n.*4385G>A
ENST00000698733.1:c.*4883G>A	ENSP00000513900.1:n.*4883G>A
ENST00000698734.1:c.*3869G>A	ENSP00000513901.1:n.*3869G>A
ENST00000698735.1:n.6047G>A
ENST00000698736.1:n.6460G>A
ENST00000372371.8:c.*1523G>A MANE Select	ENSP00000361446.3:n.*1523G>A
ENST00000372371.7:c.*1523G>A	ENSP00000361446.3:n.*1523G>A
ENST00000616246.4:c.472+4186G>A	ENSP00000483738.1:n.472+4186G>A
NM_007055.3:c.*1523G>A	NP_008986.2:n.*1523G>A
NM_007055.4:c.*1523G>A MANE Select	NP_008986.2:n.*1523G>A