Canonical Allele Identifier: CA594424624

Gene: POLR3A

Linked Data

• dbSNP Id: rs1291636167
• gnomAD v2: 10-79735678-G-C
• gnomAD v3: 10-77975920-G-C
• gnomAD v4: 10-77975920-G-C
• MyVariant Identifiers: chr10:g.79735678G>C (hg19) ; chr10:g.77975920G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77975920G>C , CM000672.2:g.77975920G>C	GRCh38
NC_000010.10:g.79735678G>C , CM000672.1:g.79735678G>C	GRCh37
NC_000010.9:g.79405684G>C	NCBI36
NG_029648.1:g.58621C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000698724.1:n.1941+4221C>G
ENST00000698725.1:n.3401C>G
ENST00000698726.1:n.4961C>G
ENST00000698727.1:n.4694C>G
ENST00000698728.1:n.5310C>G
ENST00000698729.1:n.6758C>G
ENST00000698730.1:n.6856C>G
ENST00000698731.1:c.*1558C>G	ENSP00000513898.1:n.*1558C>G
ENST00000698732.1:c.*4420C>G	ENSP00000513899.1:n.*4420C>G
ENST00000698733.1:c.*4918C>G	ENSP00000513900.1:n.*4918C>G
ENST00000698734.1:c.*3904C>G	ENSP00000513901.1:n.*3904C>G
ENST00000698735.1:n.6082C>G
ENST00000698736.1:n.6495C>G
ENST00000372371.8:c.*1558C>G MANE Select	ENSP00000361446.3:n.*1558C>G
ENST00000372371.7:c.*1558C>G	ENSP00000361446.3:n.*1558C>G
ENST00000616246.4:c.472+4221C>G	ENSP00000483738.1:n.472+4221C>G
NM_007055.3:c.*1558C>G	NP_008986.2:n.*1558C>G
NM_007055.4:c.*1558C>G MANE Select	NP_008986.2:n.*1558C>G