Canonical Allele Identifier: CA2609820179

Gene: POLR3A

Linked Data

• gnomAD v4: 10-77975829-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77975829A>G , CM000672.2:g.77975829A>G	GRCh38
NC_000010.10:g.79735587A>G , CM000672.1:g.79735587A>G	GRCh37
NC_000010.9:g.79405593A>G	NCBI36
NG_029648.1:g.58712T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698724.1:n.1941+4312T>C
ENST00000698725.1:n.3492T>C
ENST00000698726.1:n.5052T>C
ENST00000698727.1:n.4785T>C
ENST00000698728.1:n.5401T>C
ENST00000698729.1:n.6849T>C
ENST00000698730.1:n.6947T>C
ENST00000698731.1:c.*1649T>C	ENSP00000513898.1:n.*1649T>C
ENST00000698732.1:c.*4511T>C	ENSP00000513899.1:n.*4511T>C
ENST00000698733.1:c.*5009T>C	ENSP00000513900.1:n.*5009T>C
ENST00000698734.1:c.*3995T>C	ENSP00000513901.1:n.*3995T>C
ENST00000698735.1:n.6173T>C
ENST00000698736.1:n.6586T>C
ENST00000372371.8:c.*1649T>C MANE Select	ENSP00000361446.3:n.*1649T>C
ENST00000372371.7:c.*1649T>C	ENSP00000361446.3:n.*1649T>C
ENST00000616246.4:c.472+4312T>C	ENSP00000483738.1:n.472+4312T>C
NM_007055.3:c.*1649T>C	NP_008986.2:n.*1649T>C
NM_007055.4:c.*1649T>C MANE Select	NP_008986.2:n.*1649T>C