Canonical Allele Identifier: CA342783
Gene: POLR3A HGNC NCBI

Linked Data

ClinVar Variation Id: 31149
dbSNP Id: rs267608682

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.77985961G>A , CM000672.2:g.77985961G>A GRCh38
NC_000010.10:g.79745719G>A , CM000672.1:g.79745719G>A GRCh37
NC_000010.9:g.79415725G>A NCBI36
NG_029648.1:g.48580C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000698724.1:n.368C>T
ENST00000698726.1:n.2243C>T
ENST00000698727.1:n.2069C>T
ENST00000698728.1:n.2592C>T
ENST00000698729.1:n.4138C>T
ENST00000698730.1:n.4138C>T
ENST00000698731.1:c.2872C>T ENSP00000513898.1:p.Arg958Cys
ENST00000698732.1:c.*1874C>T ENSP00000513899.1:n.*1874C>T
ENST00000698733.1:c.*2200C>T ENSP00000513900.1:n.*2200C>T
ENST00000698734.1:c.*624C>T ENSP00000513901.1:n.*624C>T
ENST00000698735.1:n.3128C>T
ENST00000698736.1:n.3215C>T
ENST00000698737.1:n.3128C>T
ENST00000372371.8:c.3013C>T MANE Select ENSP00000361446.3:p.Arg1005Cys
ENST00000372371.7:c.3013C>T ENSP00000361446.3:p.Arg1005Cys
NM_007055.3:c.3013C>T NP_008986.2:p.Arg1005Cys
NM_007055.4:c.3013C>T MANE Select NP_008986.2:p.Arg1005Cys