Canonical Allele Identifier: CA377337856
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78004725C>A , CM000672.2:g.78004725C>A GRCh38
NC_000010.10:g.79764483C>A , CM000672.1:g.79764483C>A GRCh37
NC_000010.9:g.79434489C>A NCBI36
NG_029648.1:g.29816G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698727.1:n.1298G>T
ENST00000698728.1:n.1817G>T
ENST00000698729.1:n.3363G>T
ENST00000698730.1:n.3363G>T
ENST00000698731.1:c.2097G>T ENSP00000513898.1:p.Glu699Asp
ENST00000698732.1:c.*1099G>T ENSP00000513899.1:n.*1099G>T
ENST00000698733.1:c.*1425G>T ENSP00000513900.1:n.*1425G>T
ENST00000698734.1:c.2238G>T ENSP00000513901.1:p.Glu746Asp
ENST00000698735.1:n.2353G>T
ENST00000698736.1:n.2353G>T
ENST00000698737.1:n.2353G>T
ENST00000698738.1:n.2353G>T
ENST00000698739.1:n.2353G>T
ENST00000372371.8:c.2238G>T MANE Select ENSP00000361446.3:p.Glu746Asp
ENST00000372371.7:c.2238G>T ENSP00000361446.3:p.Glu746Asp
ENST00000472014.5:n.460G>T
ENST00000473588.2:c.901G>T
NM_007055.3:c.2238G>T NP_008986.2:p.Glu746Asp
NM_007055.4:c.2238G>T MANE Select NP_008986.2:p.Glu746Asp