Canonical Allele Identifier: CA377335458
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78000007T>G , CM000672.2:g.78000007T>G GRCh38
NC_000010.10:g.79759765T>G , CM000672.1:g.79759765T>G GRCh37
NC_000010.9:g.79429771T>G NCBI36
NG_029648.1:g.34534A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698727.1:n.1650A>C
ENST00000698728.1:n.2169A>C
ENST00000698729.1:n.3715A>C
ENST00000698730.1:n.3715A>C
ENST00000698731.1:c.2449A>C ENSP00000513898.1:p.Lys817Gln
ENST00000698732.1:c.*1451A>C ENSP00000513899.1:n.*1451A>C
ENST00000698733.1:c.*1777A>C ENSP00000513900.1:n.*1777A>C
ENST00000698734.1:c.2590A>C ENSP00000513901.1:p.Lys864Gln
ENST00000698735.1:n.2705A>C
ENST00000698736.1:n.2705A>C
ENST00000698737.1:n.2705A>C
ENST00000698738.1:n.2705A>C
ENST00000698739.1:n.2705A>C
ENST00000372371.8:c.2590A>C MANE Select ENSP00000361446.3:p.Lys864Gln
ENST00000372371.7:c.2590A>C ENSP00000361446.3:p.Lys864Gln
ENST00000472014.5:n.469+4709A>C
NM_007055.3:c.2590A>C NP_008986.2:p.Lys864Gln
NM_007055.4:c.2590A>C MANE Select NP_008986.2:p.Lys864Gln