Canonical Allele Identifier: CA5570638

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 1935203
• ClinVar RCV Id: RCV002623035
• dbSNP Id: rs760888111
• ExAC: 10:79739963 G / A
• gnomAD v2: 10-79739963-G-A
• gnomAD v3: 10-77980205-G-A
• gnomAD v4: 10-77980205-G-A
• MyVariant Identifiers: chr10:g.79739963G>A (hg19) ; chr10:g.77980205G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77980205G>A , CM000672.2:g.77980205G>A	GRCh38
NC_000010.10:g.79739963G>A , CM000672.1:g.79739963G>A	GRCh37
NC_000010.9:g.79409969G>A	NCBI36
NG_029648.1:g.54336C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698724.1:n.1877C>T
ENST00000698725.1:n.1630C>T
ENST00000698726.1:n.3190C>T
ENST00000698727.1:n.2923C>T
ENST00000698728.1:n.3539C>T
ENST00000698729.1:n.4987C>T
ENST00000698730.1:n.5085C>T
ENST00000698731.1:c.3819C>T	ENSP00000513898.1:p.Ser1273=
ENST00000698732.1:c.*2649C>T	ENSP00000513899.1:n.*2649C>T
ENST00000698733.1:c.*3147C>T	ENSP00000513900.1:n.*3147C>T
ENST00000698734.1:c.*2133C>T	ENSP00000513901.1:n.*2133C>T
ENST00000698735.1:n.4311C>T
ENST00000698736.1:n.4724C>T
ENST00000698737.1:n.4075C>T
ENST00000372371.8:c.3960C>T MANE Select	ENSP00000361446.3:p.Ser1320=
ENST00000372371.7:c.3960C>T	ENSP00000361446.3:p.Ser1320=
ENST00000616246.4:c.408C>T	ENSP00000483738.1:p.Ser136=
NM_007055.3:c.3960C>T	NP_008986.2:p.Ser1320=
NM_007055.4:c.3960C>T MANE Select	NP_008986.2:p.Ser1320=