Canonical Allele Identifier: CA5571126
Community Standard Title: NM_007055.4(POLR3A):c.2394T>C (p.Cys798=)
Gene: POLR3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78001060A>G , CM000672.2:g.78001060A>G GRCh38
NC_000010.10:g.79760818A>G , CM000672.1:g.79760818A>G GRCh37
NC_000010.9:g.79430824A>G NCBI36
NG_029648.1:g.33481T>C

Transcript Alleles

HGVS Amino-acid Change
NM_007055.4:c.2394T>C MANE Select NP_008986.2:p.Cys798=
ENST00000372371.8:c.2394T>C MANE Select ENSP00000361446.3:p.Cys798=
NM_007055.3:c.2394T>C NP_008986.2:p.Cys798=
ENST00000372371.7:c.2394T>C ENSP00000361446.3:p.Cys798=
ENST00000472014.5:n.469+3656T>C
ENST00000698727.1:n.1454T>C
ENST00000698728.1:n.1973T>C
ENST00000698729.1:n.3519T>C
ENST00000698730.1:n.3519T>C
ENST00000698731.1:c.2253T>C ENSP00000513898.1:p.Cys751=
ENST00000698732.1:c.*1255T>C ENSP00000513899.1:n.*1255T>C
ENST00000698733.1:c.*1581T>C ENSP00000513900.1:n.*1581T>C
ENST00000698734.1:c.2394T>C ENSP00000513901.1:p.Cys798=
ENST00000698735.1:n.2509T>C
ENST00000698736.1:n.2509T>C
ENST00000698737.1:n.2509T>C
ENST00000698738.1:n.2509T>C
ENST00000698739.1:n.2509T>C