Canonical Allele Identifier: CA2788643996
Gene: POLR3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78009796A>T , CM000672.2:g.78009796A>T GRCh38
NC_000010.10:g.79769554A>T , CM000672.1:g.79769554A>T GRCh37
NC_000010.9:g.79439560A>T NCBI36
NG_029648.1:g.24745T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698728.1:n.1349+68T>A
ENST00000698729.1:n.2895+68T>A
ENST00000698730.1:n.2895+68T>A
ENST00000698731.1:c.1629+68T>A ENSP00000513898.1:n.1629+68T>A
ENST00000698732.1:c.*631+68T>A ENSP00000513899.1:n.*631+68T>A
ENST00000698733.1:c.*957+68T>A ENSP00000513900.1:n.*957+68T>A
ENST00000698734.1:c.1770+68T>A ENSP00000513901.1:n.1770+68T>A
ENST00000698735.1:n.1885+68T>A
ENST00000698736.1:n.1885+68T>A
ENST00000698737.1:n.1885+68T>A
ENST00000698738.1:n.1885+68T>A
ENST00000698739.1:n.1885+68T>A
ENST00000372371.8:c.1770+68T>A MANE Select ENSP00000361446.3:n.1770+68T>A
ENST00000372371.7:c.1770+68T>A ENSP00000361446.3:n.1770+68T>A
ENST00000473588.2:c.572+68T>A
NM_007055.3:c.1770+68T>A NP_008986.2:n.1770+68T>A
NM_007055.4:c.1770+68T>A MANE Select NP_008986.2:n.1770+68T>A