Canonical Allele Identifier: CA377340912
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78009869G>T , CM000672.2:g.78009869G>T GRCh38
NC_000010.10:g.79769627G>T , CM000672.1:g.79769627G>T GRCh37
NC_000010.9:g.79439633G>T NCBI36
NG_029648.1:g.24672C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698728.1:n.1344C>A
ENST00000698729.1:n.2890C>A
ENST00000698730.1:n.2890C>A
ENST00000698731.1:c.1624C>A ENSP00000513898.1:p.Leu542Ile
ENST00000698732.1:c.*626C>A ENSP00000513899.1:n.*626C>A
ENST00000698733.1:c.*952C>A ENSP00000513900.1:n.*952C>A
ENST00000698734.1:c.1765C>A ENSP00000513901.1:p.Leu589Ile
ENST00000698735.1:n.1880C>A
ENST00000698736.1:n.1880C>A
ENST00000698737.1:n.1880C>A
ENST00000698738.1:n.1880C>A
ENST00000698739.1:n.1880C>A
ENST00000372371.8:c.1765C>A MANE Select ENSP00000361446.3:p.Leu589Ile
ENST00000372371.7:c.1765C>A ENSP00000361446.3:p.Leu589Ile
ENST00000473588.2:c.567C>A
NM_007055.3:c.1765C>A NP_008986.2:p.Leu589Ile
NM_007055.4:c.1765C>A MANE Select NP_008986.2:p.Leu589Ile