Canonical Allele Identifier: CA377335807
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78000109C>T , CM000672.2:g.78000109C>T GRCh38
NC_000010.10:g.79759867C>T , CM000672.1:g.79759867C>T GRCh37
NC_000010.9:g.79429873C>T NCBI36
NG_029648.1:g.34432G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698727.1:n.1548G>A
ENST00000698728.1:n.2067G>A
ENST00000698729.1:n.3613G>A
ENST00000698730.1:n.3613G>A
ENST00000698731.1:c.2347G>A ENSP00000513898.1:p.Ala783Thr
ENST00000698732.1:c.*1349G>A ENSP00000513899.1:n.*1349G>A
ENST00000698733.1:c.*1675G>A ENSP00000513900.1:n.*1675G>A
ENST00000698734.1:c.2488G>A ENSP00000513901.1:p.Ala830Thr
ENST00000698735.1:n.2603G>A
ENST00000698736.1:n.2603G>A
ENST00000698737.1:n.2603G>A
ENST00000698738.1:n.2603G>A
ENST00000698739.1:n.2603G>A
ENST00000372371.8:c.2488G>A MANE Select ENSP00000361446.3:p.Ala830Thr
ENST00000372371.7:c.2488G>A ENSP00000361446.3:p.Ala830Thr
ENST00000472014.5:n.469+4607G>A
NM_007055.3:c.2488G>A NP_008986.2:p.Ala830Thr
NM_007055.4:c.2488G>A MANE Select NP_008986.2:p.Ala830Thr