Canonical Allele Identifier: CA5571474
Community Standard Title: NM_007055.4(POLR3A):c.1311A>G (p.Arg437=)
Gene: POLR3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78017695T>C , CM000672.2:g.78017695T>C GRCh38
NC_000010.10:g.79777453T>C , CM000672.1:g.79777453T>C GRCh37
NC_000010.9:g.79447459T>C NCBI36
NG_029648.1:g.16846A>G

Transcript Alleles

HGVS Amino-acid Change
NM_007055.4:c.1311A>G MANE Select NP_008986.2:p.Arg437=
ENST00000372371.8:c.1311A>G MANE Select ENSP00000361446.3:p.Arg437=
NM_007055.3:c.1311A>G NP_008986.2:p.Arg437=
ENST00000372371.7:c.1311A>G ENSP00000361446.3:p.Arg437=
ENST00000473588.2:c.113A>G
ENST00000484760.1:n.1034A>G
ENST00000698728.1:n.890A>G
ENST00000698729.1:n.2436A>G
ENST00000698730.1:n.2436A>G
ENST00000698731.1:c.1311A>G ENSP00000513898.1:p.Arg437=
ENST00000698732.1:c.*172A>G ENSP00000513899.1:n.*172A>G
ENST00000698733.1:c.*498A>G ENSP00000513900.1:n.*498A>G
ENST00000698734.1:c.1311A>G ENSP00000513901.1:p.Arg437=
ENST00000698735.1:n.1426A>G
ENST00000698736.1:n.1426A>G
ENST00000698737.1:n.1426A>G
ENST00000698738.1:n.1426A>G
ENST00000698739.1:n.1426A>G