Canonical Allele Identifier: CA5570643

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 742403
• ClinVar RCV Id: RCV000918658
• dbSNP Id: rs116326625
• ExAC: 10:79740022 G / A
• gnomAD v2: 10-79740022-G-A
• gnomAD v3: 10-77980264-G-A
• gnomAD v4: 10-77980264-G-A
• MyVariant Identifiers: chr10:g.79740022G>A (hg19) ; chr10:g.77980264G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77980264G>A , CM000672.2:g.77980264G>A	GRCh38
NC_000010.10:g.79740022G>A , CM000672.1:g.79740022G>A	GRCh37
NC_000010.9:g.79410028G>A	NCBI36
NG_029648.1:g.54277C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698724.1:n.1818C>T
ENST00000698725.1:n.1571C>T
ENST00000698726.1:n.3131C>T
ENST00000698727.1:n.2864C>T
ENST00000698728.1:n.3480C>T
ENST00000698729.1:n.4928C>T
ENST00000698730.1:n.5026C>T
ENST00000698731.1:c.3760C>T	ENSP00000513898.1:p.Leu1254=
ENST00000698732.1:c.*2590C>T	ENSP00000513899.1:n.*2590C>T
ENST00000698733.1:c.*3088C>T	ENSP00000513900.1:n.*3088C>T
ENST00000698734.1:c.*2074C>T	ENSP00000513901.1:n.*2074C>T
ENST00000698735.1:n.4252C>T
ENST00000698736.1:n.4665C>T
ENST00000698737.1:n.4016C>T
ENST00000372371.8:c.3901C>T MANE Select	ENSP00000361446.3:p.Leu1301=
ENST00000372371.7:c.3901C>T	ENSP00000361446.3:p.Leu1301=
ENST00000616246.4:c.349C>T	ENSP00000483738.1:p.Leu117=
NM_007055.3:c.3901C>T	NP_008986.2:p.Leu1301=
NM_007055.4:c.3901C>T MANE Select	NP_008986.2:p.Leu1301=