Canonical Allele Identifier: CA10636060
Gene: POLR3A HGNC NCBI

Linked Data

ClinVar Variation Id: 301014
ClinVar RCV Id: RCV000361008
dbSNP Id: rs886047281

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.77976378C>A , CM000672.2:g.77976378C>A GRCh38
NC_000010.10:g.79736136C>A , CM000672.1:g.79736136C>A GRCh37
NC_000010.9:g.79406142C>A NCBI36
NG_029648.1:g.58163G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000698724.1:n.1941+3763G>T
ENST00000698725.1:n.2943G>T
ENST00000698726.1:n.4503G>T
ENST00000698727.1:n.4236G>T
ENST00000698728.1:n.4852G>T
ENST00000698729.1:n.6300G>T
ENST00000698730.1:n.6398G>T
ENST00000698731.1:c.*1100G>T ENSP00000513898.1:n.*1100G>T
ENST00000698732.1:c.*3962G>T ENSP00000513899.1:n.*3962G>T
ENST00000698733.1:c.*4460G>T ENSP00000513900.1:n.*4460G>T
ENST00000698734.1:c.*3446G>T ENSP00000513901.1:n.*3446G>T
ENST00000698735.1:n.5624G>T
ENST00000698736.1:n.6037G>T
ENST00000372371.8:c.*1100G>T MANE Select ENSP00000361446.3:n.*1100G>T
ENST00000372371.7:c.*1100G>T ENSP00000361446.3:n.*1100G>T
ENST00000616246.4:c.472+3763G>T ENSP00000483738.1:n.472+3763G>T
NM_007055.3:c.*1100G>T NP_008986.2:n.*1100G>T
NM_007055.4:c.*1100G>T MANE Select NP_008986.2:n.*1100G>T