Canonical Allele Identifier: CA377335466
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78000010C>T , CM000672.2:g.78000010C>T GRCh38
NC_000010.10:g.79759768C>T , CM000672.1:g.79759768C>T GRCh37
NC_000010.9:g.79429774C>T NCBI36
NG_029648.1:g.34531G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698727.1:n.1647G>A
ENST00000698728.1:n.2166G>A
ENST00000698729.1:n.3712G>A
ENST00000698730.1:n.3712G>A
ENST00000698731.1:c.2446G>A ENSP00000513898.1:p.Val816Ile
ENST00000698732.1:c.*1448G>A ENSP00000513899.1:n.*1448G>A
ENST00000698733.1:c.*1774G>A ENSP00000513900.1:n.*1774G>A
ENST00000698734.1:c.2587G>A ENSP00000513901.1:p.Val863Ile
ENST00000698735.1:n.2702G>A
ENST00000698736.1:n.2702G>A
ENST00000698737.1:n.2702G>A
ENST00000698738.1:n.2702G>A
ENST00000698739.1:n.2702G>A
ENST00000372371.8:c.2587G>A MANE Select ENSP00000361446.3:p.Val863Ile
ENST00000372371.7:c.2587G>A ENSP00000361446.3:p.Val863Ile
ENST00000472014.5:n.469+4706G>A
NM_007055.3:c.2587G>A NP_008986.2:p.Val863Ile
NM_007055.4:c.2587G>A MANE Select NP_008986.2:p.Val863Ile