Canonical Allele Identifier: CA5570719
Community Standard Title: NM_007055.4(POLR3A):c.3759+36G>C
Gene: POLR3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.77982118C>G , CM000672.2:g.77982118C>G GRCh38
NC_000010.10:g.79741876C>G , CM000672.1:g.79741876C>G GRCh37
NC_000010.9:g.79411882C>G NCBI36
NG_029648.1:g.52423G>C

Transcript Alleles

HGVS Amino-acid Change
NM_007055.4:c.3759+36G>C MANE Select NP_008986.2:n.3759+36G>C
ENST00000372371.8:c.3759+36G>C MANE Select ENSP00000361446.3:n.3759+36G>C
NM_007055.3:c.3759+36G>C NP_008986.2:n.3759+36G>C
ENST00000372371.7:c.3759+36G>C ENSP00000361446.3:n.3759+36G>C
ENST00000616246.4:c.207+36G>C ENSP00000483738.1:n.207+36G>C
ENST00000698724.1:n.1676+36G>C
ENST00000698726.1:n.2989+36G>C
ENST00000698727.1:n.2722+36G>C
ENST00000698728.1:n.3338+36G>C
ENST00000698729.1:n.4786+36G>C
ENST00000698730.1:n.4884+36G>C
ENST00000698731.1:c.3618+36G>C ENSP00000513898.1:n.3618+36G>C
ENST00000698732.1:c.*2448+110G>C ENSP00000513899.1:n.*2448+110G>C
ENST00000698733.1:c.*2946+36G>C ENSP00000513900.1:n.*2946+36G>C
ENST00000698734.1:c.*1932+36G>C ENSP00000513901.1:n.*1932+36G>C
ENST00000698735.1:n.4110+36G>C
ENST00000698736.1:n.4523+36G>C
ENST00000698737.1:n.3874+36G>C