Canonical Allele Identifier: CA668635385

Gene: POLR3A

Linked Data

• dbSNP Id: rs1417967465
• gnomAD v3: 10-77980053-G-GT
• gnomAD v4: 10-77980053-G-GT
• MyVariant Identifiers: chr10:g.79739811_79739812insT (hg19) ; chr10:g.77980053_77980054insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77980060dup , CM000672.2:g.77980060dup	GRCh38
NC_000010.10:g.79739818dup , CM000672.1:g.79739818dup	GRCh37
NC_000010.9:g.79409824dup	NCBI36
NG_029648.1:g.54487dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698724.1:n.1941+87dup
ENST00000698725.1:n.1694+87dup
ENST00000698726.1:n.3254+87dup
ENST00000698727.1:n.2987+87dup
ENST00000698728.1:n.3603+87dup
ENST00000698729.1:n.5051+87dup
ENST00000698730.1:n.5149+87dup
ENST00000698731.1:c.3883+87dup	ENSP00000513898.1:n.3883+87dup
ENST00000698732.1:c.*2713+87dup	ENSP00000513899.1:n.*2713+87dup
ENST00000698733.1:c.*3211+87dup	ENSP00000513900.1:n.*3211+87dup
ENST00000698734.1:c.*2197+87dup	ENSP00000513901.1:n.*2197+87dup
ENST00000698735.1:n.4375+87dup
ENST00000698736.1:n.4788+87dup
ENST00000372371.8:c.4024+87dup MANE Select	ENSP00000361446.3:n.4024+87dup
ENST00000372371.7:c.4024+87dup	ENSP00000361446.3:n.4024+87dup
ENST00000616246.4:c.472+87dup	ENSP00000483738.1:n.472+87dup
NM_007055.3:c.4024+87dup	NP_008986.2:n.4024+87dup
NM_007055.4:c.4024+87dup MANE Select	NP_008986.2:n.4024+87dup