Canonical Allele Identifier: CA913189866
Gene: POLR3A HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.77984023A>G , CM000672.2:g.77984023A>G GRCh38
NC_000010.10:g.79743781A>G , CM000672.1:g.79743781A>G GRCh37
NC_000010.9:g.79413787A>G NCBI36
NG_029648.1:g.50518T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698724.1:n.1254-11T>C
ENST00000698726.1:n.2567-11T>C
ENST00000698727.1:n.2392+182T>C
ENST00000698728.1:n.2916-11T>C
ENST00000698729.1:n.4364-11T>C
ENST00000698730.1:n.4462-11T>C
ENST00000698731.1:c.3196-11T>C ENSP00000513898.1:n.3196-11T>C
ENST00000698732.1:c.*2100-11T>C ENSP00000513899.1:n.*2100-11T>C
ENST00000698733.1:c.*2524-11T>C ENSP00000513900.1:n.*2524-11T>C
ENST00000698734.1:c.*1510-11T>C ENSP00000513901.1:n.*1510-11T>C
ENST00000698735.1:n.3354-11T>C
ENST00000698736.1:n.4101-11T>C
ENST00000698737.1:n.3452-11T>C
ENST00000372371.8:c.3337-11T>C MANE Select ENSP00000361446.3:n.3337-11T>C
ENST00000372371.7:c.3337-11T>C ENSP00000361446.3:n.3337-11T>C
ENST00000616246.4:c.-182-45T>C ENSP00000483738.1:n.-182-45T>C
NM_007055.3:c.3337-11T>C NP_008986.2:n.3337-11T>C
NM_007055.4:c.3337-11T>C MANE Select NP_008986.2:n.3337-11T>C