Canonical Allele Identifier: CA930254254

Gene: POLR3A

Linked Data

• dbSNP Id: rs1847082955
• gnomAD v3: 10-77975825-A-C
• gnomAD v4: 10-77975825-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77975825A>C , CM000672.2:g.77975825A>C	GRCh38
NC_000010.10:g.79735583A>C , CM000672.1:g.79735583A>C	GRCh37
NC_000010.9:g.79405589A>C	NCBI36
NG_029648.1:g.58716T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000698724.1:n.1941+4316T>G
ENST00000698725.1:n.3496T>G
ENST00000698726.1:n.5056T>G
ENST00000698727.1:n.4789T>G
ENST00000698728.1:n.5405T>G
ENST00000698729.1:n.6853T>G
ENST00000698730.1:n.6951T>G
ENST00000698731.1:c.*1653T>G	ENSP00000513898.1:n.*1653T>G
ENST00000698732.1:c.*4515T>G	ENSP00000513899.1:n.*4515T>G
ENST00000698733.1:c.*5013T>G	ENSP00000513900.1:n.*5013T>G
ENST00000698734.1:c.*3999T>G	ENSP00000513901.1:n.*3999T>G
ENST00000698735.1:n.6177T>G
ENST00000698736.1:n.6590T>G
ENST00000372371.8:c.*1653T>G MANE Select	ENSP00000361446.3:n.*1653T>G
ENST00000372371.7:c.*1653T>G	ENSP00000361446.3:n.*1653T>G
ENST00000616246.4:c.472+4316T>G	ENSP00000483738.1:n.472+4316T>G
NM_007055.3:c.*1653T>G	NP_008986.2:n.*1653T>G
NM_007055.4:c.*1653T>G MANE Select	NP_008986.2:n.*1653T>G