Canonical Allele Identifier: CA10636063

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 301021
• ClinVar RCV Id: RCV000276764
• dbSNP Id: rs74451934
• gnomAD v2: 10-79736546-G-A
• gnomAD v3: 10-77976788-G-A
• gnomAD v4: 10-77976788-G-A
• MyVariant Identifiers: chr10:g.79736546G>A (hg19) ; chr10:g.77976788G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77976788G>A , CM000672.2:g.77976788G>A	GRCh38
NC_000010.10:g.79736546G>A , CM000672.1:g.79736546G>A	GRCh37
NC_000010.9:g.79406552G>A	NCBI36
NG_029648.1:g.57753C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698724.1:n.1941+3353C>T
ENST00000698725.1:n.2533C>T
ENST00000698726.1:n.4093C>T
ENST00000698727.1:n.3826C>T
ENST00000698728.1:n.4442C>T
ENST00000698729.1:n.5890C>T
ENST00000698730.1:n.5988C>T
ENST00000698731.1:c.*690C>T	ENSP00000513898.1:n.*690C>T
ENST00000698732.1:c.*3552C>T	ENSP00000513899.1:n.*3552C>T
ENST00000698733.1:c.*4050C>T	ENSP00000513900.1:n.*4050C>T
ENST00000698734.1:c.*3036C>T	ENSP00000513901.1:n.*3036C>T
ENST00000698735.1:n.5214C>T
ENST00000698736.1:n.5627C>T
ENST00000372371.8:c.*690C>T MANE Select	ENSP00000361446.3:n.*690C>T
ENST00000372371.7:c.*690C>T	ENSP00000361446.3:n.*690C>T
ENST00000616246.4:c.472+3353C>T	ENSP00000483738.1:n.472+3353C>T
NM_007055.3:c.*690C>T	NP_008986.2:n.*690C>T
NM_007055.4:c.*690C>T MANE Select	NP_008986.2:n.*690C>T