Canonical Allele Identifier: CA2609823140

Gene: POLR3A

Linked Data

• gnomAD v4: 10-78009794-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009794T>G , CM000672.2:g.78009794T>G	GRCh38
NC_000010.10:g.79769552T>G , CM000672.1:g.79769552T>G	GRCh37
NC_000010.9:g.79439558T>G	NCBI36
NG_029648.1:g.24747A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698728.1:n.1349+70A>C
ENST00000698729.1:n.2895+70A>C
ENST00000698730.1:n.2895+70A>C
ENST00000698731.1:c.1629+70A>C	ENSP00000513898.1:n.1629+70A>C
ENST00000698732.1:c.*631+70A>C	ENSP00000513899.1:n.*631+70A>C
ENST00000698733.1:c.*957+70A>C	ENSP00000513900.1:n.*957+70A>C
ENST00000698734.1:c.1770+70A>C	ENSP00000513901.1:n.1770+70A>C
ENST00000698735.1:n.1885+70A>C
ENST00000698736.1:n.1885+70A>C
ENST00000698737.1:n.1885+70A>C
ENST00000698738.1:n.1885+70A>C
ENST00000698739.1:n.1885+70A>C
ENST00000372371.8:c.1770+70A>C MANE Select	ENSP00000361446.3:n.1770+70A>C
ENST00000372371.7:c.1770+70A>C	ENSP00000361446.3:n.1770+70A>C
ENST00000473588.2:c.572+70A>C
NM_007055.3:c.1770+70A>C	NP_008986.2:n.1770+70A>C
NM_007055.4:c.1770+70A>C MANE Select	NP_008986.2:n.1770+70A>C