Canonical Allele Identifier: CA5571193

Gene: POLR3A

Linked Data

• dbSNP Id: rs749416768
• ExAC: 10:79764486 C / G
• gnomAD v2: 10-79764486-C-G
• gnomAD v3: 10-78004728-C-G
• gnomAD v4: 10-78004728-C-G
• MyVariant Identifiers: chr10:g.79764486C>G (hg19) ; chr10:g.78004728C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78004728C>G , CM000672.2:g.78004728C>G	GRCh38
NC_000010.10:g.79764486C>G , CM000672.1:g.79764486C>G	GRCh37
NC_000010.9:g.79434492C>G	NCBI36
NG_029648.1:g.29813G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1295G>C
ENST00000698728.1:n.1814G>C
ENST00000698729.1:n.3360G>C
ENST00000698730.1:n.3360G>C
ENST00000698731.1:c.2094G>C	ENSP00000513898.1:p.Glu698Asp
ENST00000698732.1:c.*1096G>C	ENSP00000513899.1:n.*1096G>C
ENST00000698733.1:c.*1422G>C	ENSP00000513900.1:n.*1422G>C
ENST00000698734.1:c.2235G>C	ENSP00000513901.1:p.Glu745Asp
ENST00000698735.1:n.2350G>C
ENST00000698736.1:n.2350G>C
ENST00000698737.1:n.2350G>C
ENST00000698738.1:n.2350G>C
ENST00000698739.1:n.2350G>C
ENST00000372371.8:c.2235G>C MANE Select	ENSP00000361446.3:p.Glu745Asp
ENST00000372371.7:c.2235G>C	ENSP00000361446.3:p.Glu745Asp
ENST00000472014.5:n.457G>C
ENST00000473588.2:c.898G>C
NM_007055.3:c.2235G>C	NP_008986.2:p.Glu745Asp
NM_007055.4:c.2235G>C MANE Select	NP_008986.2:p.Glu745Asp