Canonical Allele Identifier: CA377337833
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.78004717T>G , CM000672.2:g.78004717T>G GRCh38
NC_000010.10:g.79764475T>G , CM000672.1:g.79764475T>G GRCh37
NC_000010.9:g.79434481T>G NCBI36
NG_029648.1:g.29824A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698727.1:n.1306A>C
ENST00000698728.1:n.1825A>C
ENST00000698729.1:n.3371A>C
ENST00000698730.1:n.3371A>C
ENST00000698731.1:c.2105A>C ENSP00000513898.1:p.Glu702Ala
ENST00000698732.1:c.*1107A>C ENSP00000513899.1:n.*1107A>C
ENST00000698733.1:c.*1433A>C ENSP00000513900.1:n.*1433A>C
ENST00000698734.1:c.2246A>C ENSP00000513901.1:p.Glu749Ala
ENST00000698735.1:n.2361A>C
ENST00000698736.1:n.2361A>C
ENST00000698737.1:n.2361A>C
ENST00000698738.1:n.2361A>C
ENST00000698739.1:n.2361A>C
ENST00000372371.8:c.2246A>C MANE Select ENSP00000361446.3:p.Glu749Ala
ENST00000372371.7:c.2246A>C ENSP00000361446.3:p.Glu749Ala
ENST00000472014.5:n.468A>C
ENST00000473588.2:c.909A>C
NM_007055.3:c.2246A>C NP_008986.2:p.Glu749Ala
NM_007055.4:c.2246A>C MANE Select NP_008986.2:p.Glu749Ala