Canonical Allele Identifier: CA344255
Gene: POLR3A HGNC NCBI

Linked Data

ClinVar Variation Id: 41246
ClinVar RCV Id: RCV000034146 RCV002513333 RCV003488355
dbSNP Id: rs200118797
ExAC: 10:79745718 C / T
gnomAD v2: 10-79745718-C-T
gnomAD v3: 10-77985960-C-T
gnomAD v4: 10-77985960-C-T
MyVariant Identifiers: chr10:g.79745718C>T (hg19) chr10:g.79745718_79745719delinsTG (hg19) chr10:g.77985960C>T (hg38)
PubMed: PMID:22855961
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.77985960C>T , CM000672.2:g.77985960C>T GRCh38
NC_000010.10:g.79745718C>T , CM000672.1:g.79745718C>T GRCh37
NC_000010.9:g.79415724C>T NCBI36
NG_029648.1:g.48581G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000698724.1:n.369G>A
ENST00000698726.1:n.2244G>A
ENST00000698727.1:n.2070G>A
ENST00000698728.1:n.2593G>A
ENST00000698729.1:n.4139G>A
ENST00000698730.1:n.4139G>A
ENST00000698731.1:c.2873G>A ENSP00000513898.1:p.Arg958His
ENST00000698732.1:c.*1875G>A ENSP00000513899.1:n.*1875G>A
ENST00000698733.1:c.*2201G>A ENSP00000513900.1:n.*2201G>A
ENST00000698734.1:c.*625G>A ENSP00000513901.1:n.*625G>A
ENST00000698735.1:n.3129G>A
ENST00000698736.1:n.3216G>A
ENST00000698737.1:n.3129G>A
ENST00000372371.8:c.3014G>A MANE Select ENSP00000361446.3:p.Arg1005His
ENST00000372371.7:c.3014G>A ENSP00000361446.3:p.Arg1005His
NM_007055.3:c.3014G>A NP_008986.2:p.Arg1005His
NM_007055.4:c.3014G>A MANE Select NP_008986.2:p.Arg1005His
Search 100 bp 5'
Search 100 bp 3'