Canonical Allele Identifier: CA377335806
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78000109C>G , CM000672.2:g.78000109C>G GRCh38
NC_000010.10:g.79759867C>G , CM000672.1:g.79759867C>G GRCh37
NC_000010.9:g.79429873C>G NCBI36
NG_029648.1:g.34432G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698727.1:n.1548G>C
ENST00000698728.1:n.2067G>C
ENST00000698729.1:n.3613G>C
ENST00000698730.1:n.3613G>C
ENST00000698731.1:c.2347G>C ENSP00000513898.1:p.Ala783Pro
ENST00000698732.1:c.*1349G>C ENSP00000513899.1:n.*1349G>C
ENST00000698733.1:c.*1675G>C ENSP00000513900.1:n.*1675G>C
ENST00000698734.1:c.2488G>C ENSP00000513901.1:p.Ala830Pro
ENST00000698735.1:n.2603G>C
ENST00000698736.1:n.2603G>C
ENST00000698737.1:n.2603G>C
ENST00000698738.1:n.2603G>C
ENST00000698739.1:n.2603G>C
ENST00000372371.8:c.2488G>C MANE Select ENSP00000361446.3:p.Ala830Pro
ENST00000372371.7:c.2488G>C ENSP00000361446.3:p.Ala830Pro
ENST00000472014.5:n.469+4607G>C
NM_007055.3:c.2488G>C NP_008986.2:p.Ala830Pro
NM_007055.4:c.2488G>C MANE Select NP_008986.2:p.Ala830Pro