Canonical Allele Identifier: CA2574591694
Gene: POLR3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78002151T>A , CM000672.2:g.78002151T>A GRCh38
NC_000010.10:g.79761909T>A , CM000672.1:g.79761909T>A GRCh37
NC_000010.9:g.79431915T>A NCBI36
NG_029648.1:g.32390A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000698727.1:n.1419+46A>T
ENST00000698728.1:n.1938+46A>T
ENST00000698729.1:n.3484+46A>T
ENST00000698730.1:n.3484+46A>T
ENST00000698731.1:c.2218+46A>T ENSP00000513898.1:n.2218+46A>T
ENST00000698732.1:c.*1220+46A>T ENSP00000513899.1:n.*1220+46A>T
ENST00000698733.1:c.*1546+46A>T ENSP00000513900.1:n.*1546+46A>T
ENST00000698734.1:c.2359+46A>T ENSP00000513901.1:n.2359+46A>T
ENST00000698735.1:n.2474+46A>T
ENST00000698736.1:n.2474+46A>T
ENST00000698737.1:n.2474+46A>T
ENST00000698738.1:n.2474+46A>T
ENST00000698739.1:n.2474+46A>T
ENST00000372371.8:c.2359+46A>T MANE Select ENSP00000361446.3:n.2359+46A>T
ENST00000372371.7:c.2359+46A>T ENSP00000361446.3:n.2359+46A>T
ENST00000472014.5:n.469+2565A>T
NM_007055.3:c.2359+46A>T NP_008986.2:n.2359+46A>T
NM_007055.4:c.2359+46A>T MANE Select NP_008986.2:n.2359+46A>T