Canonical Allele Identifier: CA377335491
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78000022C>T , CM000672.2:g.78000022C>T GRCh38
NC_000010.10:g.79759780C>T , CM000672.1:g.79759780C>T GRCh37
NC_000010.9:g.79429786C>T NCBI36
NG_029648.1:g.34519G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698727.1:n.1635G>A
ENST00000698728.1:n.2154G>A
ENST00000698729.1:n.3700G>A
ENST00000698730.1:n.3700G>A
ENST00000698731.1:c.2434G>A ENSP00000513898.1:p.Val812Ile
ENST00000698732.1:c.*1436G>A ENSP00000513899.1:n.*1436G>A
ENST00000698733.1:c.*1762G>A ENSP00000513900.1:n.*1762G>A
ENST00000698734.1:c.2575G>A ENSP00000513901.1:p.Val859Ile
ENST00000698735.1:n.2690G>A
ENST00000698736.1:n.2690G>A
ENST00000698737.1:n.2690G>A
ENST00000698738.1:n.2690G>A
ENST00000698739.1:n.2690G>A
ENST00000372371.8:c.2575G>A MANE Select ENSP00000361446.3:p.Val859Ile
ENST00000372371.7:c.2575G>A ENSP00000361446.3:p.Val859Ile
ENST00000472014.5:n.469+4694G>A
NM_007055.3:c.2575G>A NP_008986.2:p.Val859Ile
NM_007055.4:c.2575G>A MANE Select NP_008986.2:p.Val859Ile