Canonical Allele Identifier: CA930254318

Gene: POLR3A

Linked Data

• dbSNP Id: rs1847085729
• gnomAD v3: 10-77976045-T-C
• gnomAD v4: 10-77976045-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77976045T>C , CM000672.2:g.77976045T>C	GRCh38
NC_000010.10:g.79735803T>C , CM000672.1:g.79735803T>C	GRCh37
NC_000010.9:g.79405809T>C	NCBI36
NG_029648.1:g.58496A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698724.1:n.1941+4096A>G
ENST00000698725.1:n.3276A>G
ENST00000698726.1:n.4836A>G
ENST00000698727.1:n.4569A>G
ENST00000698728.1:n.5185A>G
ENST00000698729.1:n.6633A>G
ENST00000698730.1:n.6731A>G
ENST00000698731.1:c.*1433A>G	ENSP00000513898.1:n.*1433A>G
ENST00000698732.1:c.*4295A>G	ENSP00000513899.1:n.*4295A>G
ENST00000698733.1:c.*4793A>G	ENSP00000513900.1:n.*4793A>G
ENST00000698734.1:c.*3779A>G	ENSP00000513901.1:n.*3779A>G
ENST00000698735.1:n.5957A>G
ENST00000698736.1:n.6370A>G
ENST00000372371.8:c.*1433A>G MANE Select	ENSP00000361446.3:n.*1433A>G
ENST00000372371.7:c.*1433A>G	ENSP00000361446.3:n.*1433A>G
ENST00000616246.4:c.472+4096A>G	ENSP00000483738.1:n.472+4096A>G
NM_007055.3:c.*1433A>G	NP_008986.2:n.*1433A>G
NM_007055.4:c.*1433A>G MANE Select	NP_008986.2:n.*1433A>G