Canonical Allele Identifier: CA5571091

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 1442721
• ClinVar RCV Id: RCV001960343 ; RCV003490962
• dbSNP Id: rs775160820
• ExAC: 10:79759792 G / A
• gnomAD v2: 10-79759792-G-A
• gnomAD v4: 10-78000034-G-A
• MyVariant Identifiers: chr10:g.79759792G>A (hg19) ; chr10:g.78000034G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78000034G>A , CM000672.2:g.78000034G>A	GRCh38
NC_000010.10:g.79759792G>A , CM000672.1:g.79759792G>A	GRCh37
NC_000010.9:g.79429798G>A	NCBI36
NG_029648.1:g.34507C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1623C>T
ENST00000698728.1:n.2142C>T
ENST00000698729.1:n.3688C>T
ENST00000698730.1:n.3688C>T
ENST00000698731.1:c.2422C>T	ENSP00000513898.1:p.Arg808Trp
ENST00000698732.1:c.*1424C>T	ENSP00000513899.1:n.*1424C>T
ENST00000698733.1:c.*1750C>T	ENSP00000513900.1:n.*1750C>T
ENST00000698734.1:c.2563C>T	ENSP00000513901.1:p.Arg855Trp
ENST00000698735.1:n.2678C>T
ENST00000698736.1:n.2678C>T
ENST00000698737.1:n.2678C>T
ENST00000698738.1:n.2678C>T
ENST00000698739.1:n.2678C>T
ENST00000372371.8:c.2563C>T MANE Select	ENSP00000361446.3:p.Arg855Trp
ENST00000372371.7:c.2563C>T	ENSP00000361446.3:p.Arg855Trp
ENST00000472014.5:n.469+4682C>T
NM_007055.3:c.2563C>T	NP_008986.2:p.Arg855Trp
NM_007055.4:c.2563C>T MANE Select	NP_008986.2:p.Arg855Trp