Canonical Allele Identifier: CA377335559
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78000053G>C , CM000672.2:g.78000053G>C GRCh38
NC_000010.10:g.79759811G>C , CM000672.1:g.79759811G>C GRCh37
NC_000010.9:g.79429817G>C NCBI36
NG_029648.1:g.34488C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698727.1:n.1604C>G
ENST00000698728.1:n.2123C>G
ENST00000698729.1:n.3669C>G
ENST00000698730.1:n.3669C>G
ENST00000698731.1:c.2403C>G ENSP00000513898.1:p.Phe801Leu
ENST00000698732.1:c.*1405C>G ENSP00000513899.1:n.*1405C>G
ENST00000698733.1:c.*1731C>G ENSP00000513900.1:n.*1731C>G
ENST00000698734.1:c.2544C>G ENSP00000513901.1:p.Phe848Leu
ENST00000698735.1:n.2659C>G
ENST00000698736.1:n.2659C>G
ENST00000698737.1:n.2659C>G
ENST00000698738.1:n.2659C>G
ENST00000698739.1:n.2659C>G
ENST00000372371.8:c.2544C>G MANE Select ENSP00000361446.3:p.Phe848Leu
ENST00000372371.7:c.2544C>G ENSP00000361446.3:p.Phe848Leu
ENST00000472014.5:n.469+4663C>G
NM_007055.3:c.2544C>G NP_008986.2:p.Phe848Leu
NM_007055.4:c.2544C>G MANE Select NP_008986.2:p.Phe848Leu