Canonical Allele Identifier: CA5571199

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 1410403
• ClinVar RCV Id: RCV001916428 ; RCV002555784
• dbSNP Id: rs146265067
• ExAC: 10:79764521 C / T
• gnomAD v2: 10-79764521-C-T
• gnomAD v3: 10-78004763-C-T
• gnomAD v4: 10-78004763-C-T
• MyVariant Identifiers: chr10:g.79764521C>T (hg19) ; chr10:g.78004763C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78004763C>T , CM000672.2:g.78004763C>T	GRCh38
NC_000010.10:g.79764521C>T , CM000672.1:g.79764521C>T	GRCh37
NC_000010.9:g.79434527C>T	NCBI36
NG_029648.1:g.29778G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1260G>A
ENST00000698728.1:n.1779G>A
ENST00000698729.1:n.3325G>A
ENST00000698730.1:n.3325G>A
ENST00000698731.1:c.2059G>A	ENSP00000513898.1:p.Gly687Ser
ENST00000698732.1:c.*1061G>A	ENSP00000513899.1:n.*1061G>A
ENST00000698733.1:c.*1387G>A	ENSP00000513900.1:n.*1387G>A
ENST00000698734.1:c.2200G>A	ENSP00000513901.1:p.Gly734Ser
ENST00000698735.1:n.2315G>A
ENST00000698736.1:n.2315G>A
ENST00000698737.1:n.2315G>A
ENST00000698738.1:n.2315G>A
ENST00000698739.1:n.2315G>A
ENST00000372371.8:c.2200G>A MANE Select	ENSP00000361446.3:p.Gly734Ser
ENST00000372371.7:c.2200G>A	ENSP00000361446.3:p.Gly734Ser
ENST00000472014.5:n.422G>A
ENST00000473588.2:c.863G>A
NM_007055.3:c.2200G>A	NP_008986.2:p.Gly734Ser
NM_007055.4:c.2200G>A MANE Select	NP_008986.2:p.Gly734Ser