Canonical Allele Identifier: CA344259
Community Standard Title: NM_007055.4(POLR3A):c.3991G>A (p.Ala1331Thr)
Gene: POLR3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.77980174C>T , CM000672.2:g.77980174C>T GRCh38
NC_000010.10:g.79739932C>T , CM000672.1:g.79739932C>T GRCh37
NC_000010.9:g.79409938C>T NCBI36
NG_029648.1:g.54367G>A

Transcript Alleles

HGVS Amino-acid Change
NM_007055.4:c.3991G>A MANE Select NP_008986.2:p.Ala1331Thr
ENST00000372371.8:c.3991G>A MANE Select ENSP00000361446.3:p.Ala1331Thr
NM_007055.3:c.3991G>A NP_008986.2:p.Ala1331Thr
ENST00000372371.7:c.3991G>A ENSP00000361446.3:p.Ala1331Thr
ENST00000616246.4:c.439G>A ENSP00000483738.1:p.Ala147Thr
ENST00000698724.1:n.1908G>A
ENST00000698725.1:n.1661G>A
ENST00000698726.1:n.3221G>A
ENST00000698727.1:n.2954G>A
ENST00000698728.1:n.3570G>A
ENST00000698729.1:n.5018G>A
ENST00000698730.1:n.5116G>A
ENST00000698731.1:c.3850G>A ENSP00000513898.1:p.Ala1284Thr
ENST00000698732.1:c.*2680G>A ENSP00000513899.1:n.*2680G>A
ENST00000698733.1:c.*3178G>A ENSP00000513900.1:n.*3178G>A
ENST00000698734.1:c.*2164G>A ENSP00000513901.1:n.*2164G>A
ENST00000698735.1:n.4342G>A
ENST00000698736.1:n.4755G>A
ENST00000698737.1:n.4106G>A