Canonical Allele Identifier: CA377341207
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78009986A>G , CM000672.2:g.78009986A>G GRCh38
NC_000010.10:g.79769744A>G , CM000672.1:g.79769744A>G GRCh37
NC_000010.9:g.79439750A>G NCBI36
NG_029648.1:g.24555T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000698728.1:n.1227T>C
ENST00000698729.1:n.2773T>C
ENST00000698730.1:n.2773T>C
ENST00000698731.1:c.1507T>C ENSP00000513898.1:p.Tyr503His
ENST00000698732.1:c.*509T>C ENSP00000513899.1:n.*509T>C
ENST00000698733.1:c.*835T>C ENSP00000513900.1:n.*835T>C
ENST00000698734.1:c.1648T>C ENSP00000513901.1:p.Tyr550His
ENST00000698735.1:n.1763T>C
ENST00000698736.1:n.1763T>C
ENST00000698737.1:n.1763T>C
ENST00000698738.1:n.1763T>C
ENST00000698739.1:n.1763T>C
ENST00000372371.8:c.1648T>C MANE Select ENSP00000361446.3:p.Tyr550His
ENST00000372371.7:c.1648T>C ENSP00000361446.3:p.Tyr550His
ENST00000473588.2:c.450T>C
NM_007055.3:c.1648T>C NP_008986.2:p.Tyr550His
NM_007055.4:c.1648T>C MANE Select NP_008986.2:p.Tyr550His