Canonical Allele Identifier: CA377325935
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.77980147C>A , CM000672.2:g.77980147C>A GRCh38
NC_000010.10:g.79739905C>A , CM000672.1:g.79739905C>A GRCh37
NC_000010.9:g.79409911C>A NCBI36
NG_029648.1:g.54394G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698724.1:n.1935G>T
ENST00000698725.1:n.1688G>T
ENST00000698726.1:n.3248G>T
ENST00000698727.1:n.2981G>T
ENST00000698728.1:n.3597G>T
ENST00000698729.1:n.5045G>T
ENST00000698730.1:n.5143G>T
ENST00000698731.1:c.3877G>T ENSP00000513898.1:p.Val1293Leu
ENST00000698732.1:c.*2707G>T ENSP00000513899.1:n.*2707G>T
ENST00000698733.1:c.*3205G>T ENSP00000513900.1:n.*3205G>T
ENST00000698734.1:c.*2191G>T ENSP00000513901.1:n.*2191G>T
ENST00000698735.1:n.4369G>T
ENST00000698736.1:n.4782G>T
ENST00000698737.1:n.4133G>T
ENST00000372371.8:c.4018G>T MANE Select ENSP00000361446.3:p.Val1340Leu
ENST00000372371.7:c.4018G>T ENSP00000361446.3:p.Val1340Leu
ENST00000616246.4:c.466G>T ENSP00000483738.1:p.Val156Leu
NM_007055.3:c.4018G>T NP_008986.2:p.Val1340Leu
NM_007055.4:c.4018G>T MANE Select NP_008986.2:p.Val1340Leu