Canonical Allele Identifier: CA5570891
Community Standard Title: NM_007055.4(POLR3A):c.3264G>A (p.Gln1088=)
Gene: POLR3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.77984277C>T , CM000672.2:g.77984277C>T GRCh38
NC_000010.10:g.79744035C>T , CM000672.1:g.79744035C>T GRCh37
NC_000010.9:g.79414041C>T NCBI36
NG_029648.1:g.50264G>A

Transcript Alleles

HGVS Amino-acid Change
NM_007055.4:c.3264G>A MANE Select NP_008986.2:p.Gln1088=
ENST00000372371.8:c.3264G>A MANE Select ENSP00000361446.3:p.Gln1088=
NM_007055.3:c.3264G>A NP_008986.2:p.Gln1088=
ENST00000372371.7:c.3264G>A ENSP00000361446.3:p.Gln1088=
ENST00000616246.4:c.-219G>A ENSP00000483738.1:n.-219G>A
ENST00000698724.1:n.1181G>A
ENST00000698726.1:n.2494G>A
ENST00000698727.1:n.2320G>A
ENST00000698728.1:n.2843G>A
ENST00000698729.1:n.4291G>A
ENST00000698730.1:n.4389G>A
ENST00000698731.1:c.3123G>A ENSP00000513898.1:p.Gln1041=
ENST00000698732.1:c.*2027G>A ENSP00000513899.1:n.*2027G>A
ENST00000698733.1:c.*2451G>A ENSP00000513900.1:n.*2451G>A
ENST00000698734.1:c.*1437G>A ENSP00000513901.1:n.*1437G>A
ENST00000698735.1:n.3281G>A
ENST00000698736.1:n.4028G>A
ENST00000698737.1:n.3379G>A