Canonical Allele Identifier: CA930227715

Gene: POLR3A

Linked Data

• dbSNP Id: rs370384202
• gnomAD v4: 10-78009824-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009824T>C , CM000672.2:g.78009824T>C	GRCh38
NC_000010.10:g.79769582T>C , CM000672.1:g.79769582T>C	GRCh37
NC_000010.9:g.79439588T>C	NCBI36
NG_029648.1:g.24717A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698728.1:n.1349+40A>G
ENST00000698729.1:n.2895+40A>G
ENST00000698730.1:n.2895+40A>G
ENST00000698731.1:c.1629+40A>G	ENSP00000513898.1:n.1629+40A>G
ENST00000698732.1:c.*631+40A>G	ENSP00000513899.1:n.*631+40A>G
ENST00000698733.1:c.*957+40A>G	ENSP00000513900.1:n.*957+40A>G
ENST00000698734.1:c.1770+40A>G	ENSP00000513901.1:n.1770+40A>G
ENST00000698735.1:n.1885+40A>G
ENST00000698736.1:n.1885+40A>G
ENST00000698737.1:n.1885+40A>G
ENST00000698738.1:n.1885+40A>G
ENST00000698739.1:n.1885+40A>G
ENST00000372371.8:c.1770+40A>G MANE Select	ENSP00000361446.3:n.1770+40A>G
ENST00000372371.7:c.1770+40A>G	ENSP00000361446.3:n.1770+40A>G
ENST00000473588.2:c.572+40A>G
NM_007055.3:c.1770+40A>G	NP_008986.2:n.1770+40A>G
NM_007055.4:c.1770+40A>G MANE Select	NP_008986.2:n.1770+40A>G