Canonical Allele Identifier: CA2609820175

Gene: POLR3A

Linked Data

• gnomAD v4: 10-77975827-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77975827G>A , CM000672.2:g.77975827G>A	GRCh38
NC_000010.10:g.79735585G>A , CM000672.1:g.79735585G>A	GRCh37
NC_000010.9:g.79405591G>A	NCBI36
NG_029648.1:g.58714C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698724.1:n.1941+4314C>T
ENST00000698725.1:n.3494C>T
ENST00000698726.1:n.5054C>T
ENST00000698727.1:n.4787C>T
ENST00000698728.1:n.5403C>T
ENST00000698729.1:n.6851C>T
ENST00000698730.1:n.6949C>T
ENST00000698731.1:c.*1651C>T	ENSP00000513898.1:n.*1651C>T
ENST00000698732.1:c.*4513C>T	ENSP00000513899.1:n.*4513C>T
ENST00000698733.1:c.*5011C>T	ENSP00000513900.1:n.*5011C>T
ENST00000698734.1:c.*3997C>T	ENSP00000513901.1:n.*3997C>T
ENST00000698735.1:n.6175C>T
ENST00000698736.1:n.6588C>T
ENST00000372371.8:c.*1651C>T MANE Select	ENSP00000361446.3:n.*1651C>T
ENST00000372371.7:c.*1651C>T	ENSP00000361446.3:n.*1651C>T
ENST00000616246.4:c.472+4314C>T	ENSP00000483738.1:n.472+4314C>T
NM_007055.3:c.*1651C>T	NP_008986.2:n.*1651C>T
NM_007055.4:c.*1651C>T MANE Select	NP_008986.2:n.*1651C>T