Canonical Allele Identifier: CA377326092
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.77980216T>G , CM000672.2:g.77980216T>G GRCh38
NC_000010.10:g.79739974T>G , CM000672.1:g.79739974T>G GRCh37
NC_000010.9:g.79409980T>G NCBI36
NG_029648.1:g.54325A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698724.1:n.1866A>C
ENST00000698725.1:n.1619A>C
ENST00000698726.1:n.3179A>C
ENST00000698727.1:n.2912A>C
ENST00000698728.1:n.3528A>C
ENST00000698729.1:n.4976A>C
ENST00000698730.1:n.5074A>C
ENST00000698731.1:c.3808A>C ENSP00000513898.1:p.Met1270Leu
ENST00000698732.1:c.*2638A>C ENSP00000513899.1:n.*2638A>C
ENST00000698733.1:c.*3136A>C ENSP00000513900.1:n.*3136A>C
ENST00000698734.1:c.*2122A>C ENSP00000513901.1:n.*2122A>C
ENST00000698735.1:n.4300A>C
ENST00000698736.1:n.4713A>C
ENST00000698737.1:n.4064A>C
ENST00000372371.8:c.3949A>C MANE Select ENSP00000361446.3:p.Met1317Leu
ENST00000372371.7:c.3949A>C ENSP00000361446.3:p.Met1317Leu
ENST00000616246.4:c.397A>C ENSP00000483738.1:p.Met133Leu
NM_007055.3:c.3949A>C NP_008986.2:p.Met1317Leu
NM_007055.4:c.3949A>C MANE Select NP_008986.2:p.Met1317Leu