Canonical Allele Identifier: CA2609823133

Gene: POLR3A

Linked Data

• gnomAD v4: 10-78009768-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009768C>G , CM000672.2:g.78009768C>G	GRCh38
NC_000010.10:g.79769526C>G , CM000672.1:g.79769526C>G	GRCh37
NC_000010.9:g.79439532C>G	NCBI36
NG_029648.1:g.24773G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698728.1:n.1350-93G>C
ENST00000698729.1:n.2896-93G>C
ENST00000698730.1:n.2896-93G>C
ENST00000698731.1:c.1630-93G>C	ENSP00000513898.1:n.1630-93G>C
ENST00000698732.1:c.*632-93G>C	ENSP00000513899.1:n.*632-93G>C
ENST00000698733.1:c.*958-93G>C	ENSP00000513900.1:n.*958-93G>C
ENST00000698734.1:c.1771-93G>C	ENSP00000513901.1:n.1771-93G>C
ENST00000698735.1:n.1886-93G>C
ENST00000698736.1:n.1886-93G>C
ENST00000698737.1:n.1886-93G>C
ENST00000698738.1:n.1886-93G>C
ENST00000698739.1:n.1886-93G>C
ENST00000372371.8:c.1771-93G>C MANE Select	ENSP00000361446.3:n.1771-93G>C
ENST00000372371.7:c.1771-93G>C	ENSP00000361446.3:n.1771-93G>C
ENST00000473588.2:c.572+96G>C
NM_007055.3:c.1771-93G>C	NP_008986.2:n.1771-93G>C
NM_007055.4:c.1771-93G>C MANE Select	NP_008986.2:n.1771-93G>C