Canonical Allele Identifier: CA377333825

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 1501190
• ClinVar RCV Id: RCV002017280
• dbSNP Id: rs2131937028
• MyVariant Identifiers: chr10:g.79752954C>T (hg19) ; chr10:g.77993196C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77993196C>T , CM000672.2:g.77993196C>T	GRCh38
NC_000010.10:g.79752954C>T , CM000672.1:g.79752954C>T	GRCh37
NC_000010.9:g.79422960C>T	NCBI36
NG_029648.1:g.41345G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698724.1:n.55+1G>A
ENST00000698727.1:n.1847+1G>A
ENST00000698728.1:n.2366+1G>A
ENST00000698729.1:n.3912+1G>A
ENST00000698730.1:n.3912+1G>A
ENST00000698731.1:c.2646+1G>A	ENSP00000513898.1:n.2646+1G>A
ENST00000698732.1:c.*1648+1G>A	ENSP00000513899.1:n.*1648+1G>A
ENST00000698733.1:c.*1974+1G>A	ENSP00000513900.1:n.*1974+1G>A
ENST00000698734.1:c.*311+1G>A	ENSP00000513901.1:n.*311+1G>A
ENST00000698735.1:n.2902+1G>A
ENST00000698736.1:n.2902+1G>A
ENST00000698737.1:n.2902+1G>A
ENST00000698738.1:n.2902+1G>A
ENST00000698739.1:n.2903G>A
ENST00000372371.8:c.2787+1G>A MANE Select	ENSP00000361446.3:n.2787+1G>A
ENST00000372371.7:c.2787+1G>A	ENSP00000361446.3:n.2787+1G>A
ENST00000472014.5:n.640+1G>A
NM_007055.3:c.2787+1G>A	NP_008986.2:n.2787+1G>A
NM_007055.4:c.2787+1G>A MANE Select	NP_008986.2:n.2787+1G>A