Canonical Allele Identifier: CA930227712

Gene: POLR3A

Linked Data

• dbSNP Id: rs1847448206
• gnomAD v3: 10-78009820-C-T
• gnomAD v4: 10-78009820-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009820C>T , CM000672.2:g.78009820C>T	GRCh38
NC_000010.10:g.79769578C>T , CM000672.1:g.79769578C>T	GRCh37
NC_000010.9:g.79439584C>T	NCBI36
NG_029648.1:g.24721G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698728.1:n.1349+44G>A
ENST00000698729.1:n.2895+44G>A
ENST00000698730.1:n.2895+44G>A
ENST00000698731.1:c.1629+44G>A	ENSP00000513898.1:n.1629+44G>A
ENST00000698732.1:c.*631+44G>A	ENSP00000513899.1:n.*631+44G>A
ENST00000698733.1:c.*957+44G>A	ENSP00000513900.1:n.*957+44G>A
ENST00000698734.1:c.1770+44G>A	ENSP00000513901.1:n.1770+44G>A
ENST00000698735.1:n.1885+44G>A
ENST00000698736.1:n.1885+44G>A
ENST00000698737.1:n.1885+44G>A
ENST00000698738.1:n.1885+44G>A
ENST00000698739.1:n.1885+44G>A
ENST00000372371.8:c.1770+44G>A MANE Select	ENSP00000361446.3:n.1770+44G>A
ENST00000372371.7:c.1770+44G>A	ENSP00000361446.3:n.1770+44G>A
ENST00000473588.2:c.572+44G>A
NM_007055.3:c.1770+44G>A	NP_008986.2:n.1770+44G>A
NM_007055.4:c.1770+44G>A MANE Select	NP_008986.2:n.1770+44G>A