Canonical Allele Identifier: CA2609820241

Gene: POLR3A

Linked Data

• gnomAD v4: 10-77975931-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77975931C>G , CM000672.2:g.77975931C>G	GRCh38
NC_000010.10:g.79735689C>G , CM000672.1:g.79735689C>G	GRCh37
NC_000010.9:g.79405695C>G	NCBI36
NG_029648.1:g.58610G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698724.1:n.1941+4210G>C
ENST00000698725.1:n.3390G>C
ENST00000698726.1:n.4950G>C
ENST00000698727.1:n.4683G>C
ENST00000698728.1:n.5299G>C
ENST00000698729.1:n.6747G>C
ENST00000698730.1:n.6845G>C
ENST00000698731.1:c.*1547G>C	ENSP00000513898.1:n.*1547G>C
ENST00000698732.1:c.*4409G>C	ENSP00000513899.1:n.*4409G>C
ENST00000698733.1:c.*4907G>C	ENSP00000513900.1:n.*4907G>C
ENST00000698734.1:c.*3893G>C	ENSP00000513901.1:n.*3893G>C
ENST00000698735.1:n.6071G>C
ENST00000698736.1:n.6484G>C
ENST00000372371.8:c.*1547G>C MANE Select	ENSP00000361446.3:n.*1547G>C
ENST00000372371.7:c.*1547G>C	ENSP00000361446.3:n.*1547G>C
ENST00000616246.4:c.472+4210G>C	ENSP00000483738.1:n.472+4210G>C
NM_007055.3:c.*1547G>C	NP_008986.2:n.*1547G>C
NM_007055.4:c.*1547G>C MANE Select	NP_008986.2:n.*1547G>C