Canonical Allele Identifier: CA2609820163

Gene: POLR3A

Linked Data

• gnomAD v4: 10-77975812-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77975812C>A , CM000672.2:g.77975812C>A	GRCh38
NC_000010.10:g.79735570C>A , CM000672.1:g.79735570C>A	GRCh37
NC_000010.9:g.79405576C>A	NCBI36
NG_029648.1:g.58729G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698724.1:n.1941+4329G>T
ENST00000698725.1:n.3509G>T
ENST00000698726.1:n.5069G>T
ENST00000698727.1:n.4802G>T
ENST00000698728.1:n.5418G>T
ENST00000698729.1:n.6866G>T
ENST00000698730.1:n.6964G>T
ENST00000698731.1:c.*1666G>T	ENSP00000513898.1:n.*1666G>T
ENST00000698732.1:c.*4528G>T	ENSP00000513899.1:n.*4528G>T
ENST00000698733.1:c.*5026G>T	ENSP00000513900.1:n.*5026G>T
ENST00000698734.1:c.*4012G>T	ENSP00000513901.1:n.*4012G>T
ENST00000698735.1:n.6190G>T
ENST00000698736.1:n.6603G>T
ENST00000372371.8:c.*1666G>T MANE Select	ENSP00000361446.3:n.*1666G>T
ENST00000372371.7:c.*1666G>T	ENSP00000361446.3:n.*1666G>T
ENST00000616246.4:c.472+4329G>T	ENSP00000483738.1:n.472+4329G>T
NM_007055.3:c.*1666G>T	NP_008986.2:n.*1666G>T
NM_007055.4:c.*1666G>T MANE Select	NP_008986.2:n.*1666G>T