Canonical Allele Identifier: CA377338121
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78004776T>G , CM000672.2:g.78004776T>G GRCh38
NC_000010.10:g.79764534T>G , CM000672.1:g.79764534T>G GRCh37
NC_000010.9:g.79434540T>G NCBI36
NG_029648.1:g.29765A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698727.1:n.1247A>C
ENST00000698728.1:n.1766A>C
ENST00000698729.1:n.3312A>C
ENST00000698730.1:n.3312A>C
ENST00000698731.1:c.2046A>C ENSP00000513898.1:p.Glu682Asp
ENST00000698732.1:c.*1048A>C ENSP00000513899.1:n.*1048A>C
ENST00000698733.1:c.*1374A>C ENSP00000513900.1:n.*1374A>C
ENST00000698734.1:c.2187A>C ENSP00000513901.1:p.Glu729Asp
ENST00000698735.1:n.2302A>C
ENST00000698736.1:n.2302A>C
ENST00000698737.1:n.2302A>C
ENST00000698738.1:n.2302A>C
ENST00000698739.1:n.2302A>C
ENST00000372371.8:c.2187A>C MANE Select ENSP00000361446.3:p.Glu729Asp
ENST00000372371.7:c.2187A>C ENSP00000361446.3:p.Glu729Asp
ENST00000472014.5:n.409A>C
ENST00000473588.2:c.850A>C
NM_007055.3:c.2187A>C NP_008986.2:p.Glu729Asp
NM_007055.4:c.2187A>C MANE Select NP_008986.2:p.Glu729Asp