Canonical Allele Identifier: CA10636031

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 300984
• ClinVar RCV Id: RCV000283050
• dbSNP Id: rs756926484
• gnomAD v2: 10-79735163-G-T
• gnomAD v3: 10-77975405-G-T
• gnomAD v4: 10-77975405-G-T
• MyVariant Identifiers: chr10:g.79735163G>T (hg19) ; chr10:g.77975405G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77975405G>T , CM000672.2:g.77975405G>T	GRCh38
NC_000010.10:g.79735163G>T , CM000672.1:g.79735163G>T	GRCh37
NC_000010.9:g.79405169G>T	NCBI36
NG_029648.1:g.59136C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698724.1:n.1941+4736C>A
ENST00000698725.1:n.3916C>A
ENST00000698726.1:n.5476C>A
ENST00000698727.1:n.5209C>A
ENST00000698728.1:n.5825C>A
ENST00000698729.1:n.7273C>A
ENST00000698730.1:n.7371C>A
ENST00000698731.1:c.*2073C>A	ENSP00000513898.1:n.*2073C>A
ENST00000698732.1:c.*4935C>A	ENSP00000513899.1:n.*4935C>A
ENST00000698733.1:c.*5433C>A	ENSP00000513900.1:n.*5433C>A
ENST00000698734.1:c.*4419C>A	ENSP00000513901.1:n.*4419C>A
ENST00000698735.1:n.6597C>A
ENST00000698736.1:n.7010C>A
ENST00000372371.8:c.*2073C>A MANE Select	ENSP00000361446.3:n.*2073C>A
ENST00000372371.7:c.*2073C>A	ENSP00000361446.3:n.*2073C>A
ENST00000616246.4:c.472+4736C>A	ENSP00000483738.1:n.472+4736C>A
NM_007055.3:c.*2073C>A	NP_008986.2:n.*2073C>A
NM_007055.4:c.*2073C>A MANE Select	NP_008986.2:n.*2073C>A