Canonical Allele Identifier: CA344249
Gene: POLR3A HGNC NCBI

Linked Data

ClinVar Variation Id: 41241
dbSNP Id: rs267608668

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78009960G>C , CM000672.2:g.78009960G>C GRCh38
NC_000010.10:g.79769718G>C , CM000672.1:g.79769718G>C GRCh37
NC_000010.9:g.79439724G>C NCBI36
NG_029648.1:g.24581C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000698728.1:n.1253C>G
ENST00000698729.1:n.2799C>G
ENST00000698730.1:n.2799C>G
ENST00000698731.1:c.1533C>G ENSP00000513898.1:p.Phe511Leu
ENST00000698732.1:c.*535C>G ENSP00000513899.1:n.*535C>G
ENST00000698733.1:c.*861C>G ENSP00000513900.1:n.*861C>G
ENST00000698734.1:c.1674C>G ENSP00000513901.1:p.Phe558Leu
ENST00000698735.1:n.1789C>G
ENST00000698736.1:n.1789C>G
ENST00000698737.1:n.1789C>G
ENST00000698738.1:n.1789C>G
ENST00000698739.1:n.1789C>G
ENST00000372371.8:c.1674C>G MANE Select ENSP00000361446.3:p.Phe558Leu
ENST00000372371.7:c.1674C>G ENSP00000361446.3:p.Phe558Leu
ENST00000473588.2:c.476C>G
NM_007055.3:c.1674C>G NP_008986.2:p.Phe558Leu
NM_007055.4:c.1674C>G MANE Select NP_008986.2:p.Phe558Leu