Canonical Allele Identifier: CA10636050

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 301001
• ClinVar RCV Id: RCV000262168
• dbSNP Id: rs61152426
• gnomAD v2: 10-79735541-C-T
• gnomAD v3: 10-77975783-C-T
• gnomAD v4: 10-77975783-C-T
• MyVariant Identifiers: chr10:g.79735541C>T (hg19) ; chr10:g.77975783C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77975783C>T , CM000672.2:g.77975783C>T	GRCh38
NC_000010.10:g.79735541C>T , CM000672.1:g.79735541C>T	GRCh37
NC_000010.9:g.79405547C>T	NCBI36
NG_029648.1:g.58758G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698724.1:n.1941+4358G>A
ENST00000698725.1:n.3538G>A
ENST00000698726.1:n.5098G>A
ENST00000698727.1:n.4831G>A
ENST00000698728.1:n.5447G>A
ENST00000698729.1:n.6895G>A
ENST00000698730.1:n.6993G>A
ENST00000698731.1:c.*1695G>A	ENSP00000513898.1:n.*1695G>A
ENST00000698732.1:c.*4557G>A	ENSP00000513899.1:n.*4557G>A
ENST00000698733.1:c.*5055G>A	ENSP00000513900.1:n.*5055G>A
ENST00000698734.1:c.*4041G>A	ENSP00000513901.1:n.*4041G>A
ENST00000698735.1:n.6219G>A
ENST00000698736.1:n.6632G>A
ENST00000372371.8:c.*1695G>A MANE Select	ENSP00000361446.3:n.*1695G>A
ENST00000372371.7:c.*1695G>A	ENSP00000361446.3:n.*1695G>A
ENST00000616246.4:c.472+4358G>A	ENSP00000483738.1:n.472+4358G>A
NM_007055.3:c.*1695G>A	NP_008986.2:n.*1695G>A
NM_007055.4:c.*1695G>A MANE Select	NP_008986.2:n.*1695G>A