Canonical Allele Identifier: CA5570640

Gene: POLR3A

Linked Data

• dbSNP Id: rs776762645
• ExAC: 10:79740006 A / G
• gnomAD v2: 10-79740006-A-G
• gnomAD v4: 10-77980248-A-G
• COSMIC: COSM314329
• MyVariant Identifiers: chr10:g.79740006A>G (hg19) ; chr10:g.77980248A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77980248A>G , CM000672.2:g.77980248A>G	GRCh38
NC_000010.10:g.79740006A>G , CM000672.1:g.79740006A>G	GRCh37
NC_000010.9:g.79410012A>G	NCBI36
NG_029648.1:g.54293T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698724.1:n.1834T>C
ENST00000698725.1:n.1587T>C
ENST00000698726.1:n.3147T>C
ENST00000698727.1:n.2880T>C
ENST00000698728.1:n.3496T>C
ENST00000698729.1:n.4944T>C
ENST00000698730.1:n.5042T>C
ENST00000698731.1:c.3776T>C	ENSP00000513898.1:p.Phe1259Ser
ENST00000698732.1:c.*2606T>C	ENSP00000513899.1:n.*2606T>C
ENST00000698733.1:c.*3104T>C	ENSP00000513900.1:n.*3104T>C
ENST00000698734.1:c.*2090T>C	ENSP00000513901.1:n.*2090T>C
ENST00000698735.1:n.4268T>C
ENST00000698736.1:n.4681T>C
ENST00000698737.1:n.4032T>C
ENST00000372371.8:c.3917T>C MANE Select	ENSP00000361446.3:p.Phe1306Ser
ENST00000372371.7:c.3917T>C	ENSP00000361446.3:p.Phe1306Ser
ENST00000616246.4:c.365T>C	ENSP00000483738.1:p.Phe122Ser
NM_007055.3:c.3917T>C	NP_008986.2:p.Phe1306Ser
NM_007055.4:c.3917T>C MANE Select	NP_008986.2:p.Phe1306Ser