Canonical Allele Identifier: CA5570656

Gene: POLR3A

Linked Data

• dbSNP Id: rs770781087
• ExAC: 10:79740064 T / G
• gnomAD v2: 10-79740064-T-G
• gnomAD v3: 10-77980306-T-G
• gnomAD v4: 10-77980306-T-G
• MyVariant Identifiers: chr10:g.79740064T>G (hg19) ; chr10:g.79740064_79740068delinsGCACA (hg19) ; chr10:g.77980306T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77980306T>G , CM000672.2:g.77980306T>G	GRCh38
NC_000010.10:g.79740064T>G , CM000672.1:g.79740064T>G	GRCh37
NC_000010.9:g.79410070T>G	NCBI36
NG_029648.1:g.54235A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698724.1:n.1809-33A>C
ENST00000698725.1:n.1529A>C
ENST00000698726.1:n.3122-33A>C
ENST00000698727.1:n.2855-33A>C
ENST00000698728.1:n.3471-33A>C
ENST00000698729.1:n.4919-33A>C
ENST00000698730.1:n.5017-33A>C
ENST00000698731.1:c.3751-33A>C	ENSP00000513898.1:n.3751-33A>C
ENST00000698732.1:c.*2581-33A>C	ENSP00000513899.1:n.*2581-33A>C
ENST00000698733.1:c.*3079-33A>C	ENSP00000513900.1:n.*3079-33A>C
ENST00000698734.1:c.*2065-33A>C	ENSP00000513901.1:n.*2065-33A>C
ENST00000698735.1:n.4243-33A>C
ENST00000698736.1:n.4656-33A>C
ENST00000698737.1:n.4007-33A>C
ENST00000372371.8:c.3892-33A>C MANE Select	ENSP00000361446.3:n.3892-33A>C
ENST00000372371.7:c.3892-33A>C	ENSP00000361446.3:n.3892-33A>C
ENST00000616246.4:c.340-33A>C	ENSP00000483738.1:n.340-33A>C
NM_007055.3:c.3892-33A>C	NP_008986.2:n.3892-33A>C
NM_007055.4:c.3892-33A>C MANE Select	NP_008986.2:n.3892-33A>C