Canonical Allele Identifier: CA210183061

Gene: POLR3A

Linked Data

• dbSNP Id: rs1007744834
• gnomAD v2: 10-79735812-T-C
• gnomAD v3: 10-77976054-T-C
• gnomAD v4: 10-77976054-T-C
• MyVariant Identifiers: chr10:g.79735812T>C (hg19) ; chr10:g.77976054T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77976054T>C , CM000672.2:g.77976054T>C	GRCh38
NC_000010.10:g.79735812T>C , CM000672.1:g.79735812T>C	GRCh37
NC_000010.9:g.79405818T>C	NCBI36
NG_029648.1:g.58487A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698724.1:n.1941+4087A>G
ENST00000698725.1:n.3267A>G
ENST00000698726.1:n.4827A>G
ENST00000698727.1:n.4560A>G
ENST00000698728.1:n.5176A>G
ENST00000698729.1:n.6624A>G
ENST00000698730.1:n.6722A>G
ENST00000698731.1:c.*1424A>G	ENSP00000513898.1:n.*1424A>G
ENST00000698732.1:c.*4286A>G	ENSP00000513899.1:n.*4286A>G
ENST00000698733.1:c.*4784A>G	ENSP00000513900.1:n.*4784A>G
ENST00000698734.1:c.*3770A>G	ENSP00000513901.1:n.*3770A>G
ENST00000698735.1:n.5948A>G
ENST00000698736.1:n.6361A>G
ENST00000372371.8:c.*1424A>G MANE Select	ENSP00000361446.3:n.*1424A>G
ENST00000372371.7:c.*1424A>G	ENSP00000361446.3:n.*1424A>G
ENST00000616246.4:c.472+4087A>G	ENSP00000483738.1:n.472+4087A>G
NM_007055.3:c.*1424A>G	NP_008986.2:n.*1424A>G
NM_007055.4:c.*1424A>G MANE Select	NP_008986.2:n.*1424A>G