Canonical Allele Identifier: CA594426249

Gene: POLR3A

Linked Data

• dbSNP Id: rs1160692285
• gnomAD v2: 10-79740071-A-G
• MyVariant Identifiers: chr10:g.79740071A>G (hg19) ; chr10:g.77980313A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77980313A>G , CM000672.2:g.77980313A>G	GRCh38
NC_000010.10:g.79740071A>G , CM000672.1:g.79740071A>G	GRCh37
NC_000010.9:g.79410077A>G	NCBI36
NG_029648.1:g.54228T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698724.1:n.1809-40T>C
ENST00000698725.1:n.1522T>C
ENST00000698726.1:n.3122-40T>C
ENST00000698727.1:n.2855-40T>C
ENST00000698728.1:n.3471-40T>C
ENST00000698729.1:n.4919-40T>C
ENST00000698730.1:n.5017-40T>C
ENST00000698731.1:c.3751-40T>C	ENSP00000513898.1:n.3751-40T>C
ENST00000698732.1:c.*2581-40T>C	ENSP00000513899.1:n.*2581-40T>C
ENST00000698733.1:c.*3079-40T>C	ENSP00000513900.1:n.*3079-40T>C
ENST00000698734.1:c.*2065-40T>C	ENSP00000513901.1:n.*2065-40T>C
ENST00000698735.1:n.4243-40T>C
ENST00000698736.1:n.4656-40T>C
ENST00000698737.1:n.4007-40T>C
ENST00000372371.8:c.3892-40T>C MANE Select	ENSP00000361446.3:n.3892-40T>C
ENST00000372371.7:c.3892-40T>C	ENSP00000361446.3:n.3892-40T>C
ENST00000616246.4:c.340-40T>C	ENSP00000483738.1:n.340-40T>C
NM_007055.3:c.3892-40T>C	NP_008986.2:n.3892-40T>C
NM_007055.4:c.3892-40T>C MANE Select	NP_008986.2:n.3892-40T>C