Canonical Allele Identifier: CA5571051

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 1030182
• ClinVar RCV Id: RCV001331678 ; RCV001871820
• dbSNP Id: rs773941193
• ExAC: 10:79753056 C / T
• gnomAD v2: 10-79753056-C-T
• gnomAD v3: 10-77993298-C-T
• gnomAD v4: 10-77993298-C-T
• COSMIC: COSM295292
• MyVariant Identifiers: chr10:g.79753056C>T (hg19) ; chr10:g.77993298C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77993298C>T , CM000672.2:g.77993298C>T	GRCh38
NC_000010.10:g.79753056C>T , CM000672.1:g.79753056C>T	GRCh37
NC_000010.9:g.79423062C>T	NCBI36
NG_029648.1:g.41243G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698727.1:n.1746G>A
ENST00000698728.1:n.2265G>A
ENST00000698729.1:n.3811G>A
ENST00000698730.1:n.3811G>A
ENST00000698731.1:c.2545G>A	ENSP00000513898.1:p.Asp849Asn
ENST00000698732.1:c.*1547G>A	ENSP00000513899.1:n.*1547G>A
ENST00000698733.1:c.*1873G>A	ENSP00000513900.1:n.*1873G>A
ENST00000698734.1:c.*210G>A	ENSP00000513901.1:n.*210G>A
ENST00000698735.1:n.2801G>A
ENST00000698736.1:n.2801G>A
ENST00000698737.1:n.2801G>A
ENST00000698738.1:n.2801G>A
ENST00000698739.1:n.2801G>A
ENST00000372371.8:c.2686G>A MANE Select	ENSP00000361446.3:p.Asp896Asn
ENST00000372371.7:c.2686G>A	ENSP00000361446.3:p.Asp896Asn
ENST00000472014.5:n.539G>A
NM_007055.3:c.2686G>A	NP_008986.2:p.Asp896Asn
NM_007055.4:c.2686G>A MANE Select	NP_008986.2:p.Asp896Asn