Canonical Allele Identifier: CA2609821229

Gene: POLR3A

Linked Data

• gnomAD v4: 10-77980340-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77980340G>C , CM000672.2:g.77980340G>C	GRCh38
NC_000010.10:g.79740098G>C , CM000672.1:g.79740098G>C	GRCh37
NC_000010.9:g.79410104G>C	NCBI36
NG_029648.1:g.54201C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698724.1:n.1809-67C>G
ENST00000698725.1:n.1495C>G
ENST00000698726.1:n.3122-67C>G
ENST00000698727.1:n.2855-67C>G
ENST00000698728.1:n.3471-67C>G
ENST00000698729.1:n.4919-67C>G
ENST00000698730.1:n.5017-67C>G
ENST00000698731.1:c.3751-67C>G	ENSP00000513898.1:n.3751-67C>G
ENST00000698732.1:c.*2581-67C>G	ENSP00000513899.1:n.*2581-67C>G
ENST00000698733.1:c.*3079-67C>G	ENSP00000513900.1:n.*3079-67C>G
ENST00000698734.1:c.*2065-67C>G	ENSP00000513901.1:n.*2065-67C>G
ENST00000698735.1:n.4243-67C>G
ENST00000698736.1:n.4656-67C>G
ENST00000698737.1:n.4007-67C>G
ENST00000372371.8:c.3892-67C>G MANE Select	ENSP00000361446.3:n.3892-67C>G
ENST00000372371.7:c.3892-67C>G	ENSP00000361446.3:n.3892-67C>G
ENST00000616246.4:c.340-67C>G	ENSP00000483738.1:n.340-67C>G
NM_007055.3:c.3892-67C>G	NP_008986.2:n.3892-67C>G
NM_007055.4:c.3892-67C>G MANE Select	NP_008986.2:n.3892-67C>G