Canonical Allele Identifier: CA377341110
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78009962A>C , CM000672.2:g.78009962A>C GRCh38
NC_000010.10:g.79769720A>C , CM000672.1:g.79769720A>C GRCh37
NC_000010.9:g.79439726A>C NCBI36
NG_029648.1:g.24579T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698728.1:n.1251T>G
ENST00000698729.1:n.2797T>G
ENST00000698730.1:n.2797T>G
ENST00000698731.1:c.1531T>G ENSP00000513898.1:p.Phe511Val
ENST00000698732.1:c.*533T>G ENSP00000513899.1:n.*533T>G
ENST00000698733.1:c.*859T>G ENSP00000513900.1:n.*859T>G
ENST00000698734.1:c.1672T>G ENSP00000513901.1:p.Phe558Val
ENST00000698735.1:n.1787T>G
ENST00000698736.1:n.1787T>G
ENST00000698737.1:n.1787T>G
ENST00000698738.1:n.1787T>G
ENST00000698739.1:n.1787T>G
ENST00000372371.8:c.1672T>G MANE Select ENSP00000361446.3:p.Phe558Val
ENST00000372371.7:c.1672T>G ENSP00000361446.3:p.Phe558Val
ENST00000473588.2:c.474T>G
NM_007055.3:c.1672T>G NP_008986.2:p.Phe558Val
NM_007055.4:c.1672T>G MANE Select NP_008986.2:p.Phe558Val