Canonical Allele Identifier: CA2609820243

Gene: POLR3A

Linked Data

• gnomAD v4: 10-77975936-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77975936T>C , CM000672.2:g.77975936T>C	GRCh38
NC_000010.10:g.79735694T>C , CM000672.1:g.79735694T>C	GRCh37
NC_000010.9:g.79405700T>C	NCBI36
NG_029648.1:g.58605A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000698724.1:n.1941+4205A>G
ENST00000698725.1:n.3385A>G
ENST00000698726.1:n.4945A>G
ENST00000698727.1:n.4678A>G
ENST00000698728.1:n.5294A>G
ENST00000698729.1:n.6742A>G
ENST00000698730.1:n.6840A>G
ENST00000698731.1:c.*1542A>G	ENSP00000513898.1:n.*1542A>G
ENST00000698732.1:c.*4404A>G	ENSP00000513899.1:n.*4404A>G
ENST00000698733.1:c.*4902A>G	ENSP00000513900.1:n.*4902A>G
ENST00000698734.1:c.*3888A>G	ENSP00000513901.1:n.*3888A>G
ENST00000698735.1:n.6066A>G
ENST00000698736.1:n.6479A>G
ENST00000372371.8:c.*1542A>G MANE Select	ENSP00000361446.3:n.*1542A>G
ENST00000372371.7:c.*1542A>G	ENSP00000361446.3:n.*1542A>G
ENST00000616246.4:c.472+4205A>G	ENSP00000483738.1:n.472+4205A>G
NM_007055.3:c.*1542A>G	NP_008986.2:n.*1542A>G
NM_007055.4:c.*1542A>G MANE Select	NP_008986.2:n.*1542A>G