Canonical Allele Identifier: CA1921511039
Gene: POLR3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78009979A= , CM000672.2:g.78009979A= GRCh38
NC_000010.10:g.79769737A= , CM000672.1:g.79769737A= GRCh37
NC_000010.9:g.79439743A= NCBI36
NG_029648.1:g.24562T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000698728.1:n.1234T=
ENST00000698729.1:n.2780T=
ENST00000698730.1:n.2780T=
ENST00000698731.1:c.1514T= ENSP00000513898.1:p.Leu505=
ENST00000698732.1:c.*516T= ENSP00000513899.1:n.*516T=
ENST00000698733.1:c.*842T= ENSP00000513900.1:n.*842T=
ENST00000698734.1:c.1655T= ENSP00000513901.1:p.Leu552=
ENST00000698735.1:n.1770T=
ENST00000698736.1:n.1770T=
ENST00000698737.1:n.1770T=
ENST00000698738.1:n.1770T=
ENST00000698739.1:n.1770T=
ENST00000372371.8:c.1655T= MANE Select ENSP00000361446.3:p.Leu552=
ENST00000372371.7:c.1655T= ENSP00000361446.3:p.Leu552=
ENST00000473588.2:c.457T=
NM_007055.3:c.1655T= NP_008986.2:p.Leu552=
NM_007055.4:c.1655T= MANE Select NP_008986.2:p.Leu552=