Canonical Allele Identifier: CA594710674

Gene: POLR3A

Linked Data

• dbSNP Id: rs1473517286
• gnomAD v2: 10-79769529-G-A
• gnomAD v3: 10-78009771-G-A
• gnomAD v4: 10-78009771-G-A
• MyVariant Identifiers: chr10:g.79769529G>A (hg19) ; chr10:g.78009771G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009771G>A , CM000672.2:g.78009771G>A	GRCh38
NC_000010.10:g.79769529G>A , CM000672.1:g.79769529G>A	GRCh37
NC_000010.9:g.79439535G>A	NCBI36
NG_029648.1:g.24770C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698728.1:n.1349+93C>T
ENST00000698729.1:n.2895+93C>T
ENST00000698730.1:n.2895+93C>T
ENST00000698731.1:c.1629+93C>T	ENSP00000513898.1:n.1629+93C>T
ENST00000698732.1:c.*631+93C>T	ENSP00000513899.1:n.*631+93C>T
ENST00000698733.1:c.*957+93C>T	ENSP00000513900.1:n.*957+93C>T
ENST00000698734.1:c.1770+93C>T	ENSP00000513901.1:n.1770+93C>T
ENST00000698735.1:n.1885+93C>T
ENST00000698736.1:n.1885+93C>T
ENST00000698737.1:n.1885+93C>T
ENST00000698738.1:n.1885+93C>T
ENST00000698739.1:n.1885+93C>T
ENST00000372371.8:c.1770+93C>T MANE Select	ENSP00000361446.3:n.1770+93C>T
ENST00000372371.7:c.1770+93C>T	ENSP00000361446.3:n.1770+93C>T
ENST00000473588.2:c.572+93C>T
NM_007055.3:c.1770+93C>T	NP_008986.2:n.1770+93C>T
NM_007055.4:c.1770+93C>T MANE Select	NP_008986.2:n.1770+93C>T