Canonical Allele Identifier: CA930254249

Gene: POLR3A

Linked Data

• dbSNP Id: rs1847082894
• gnomAD v3: 10-77975820-C-CAGGA
• gnomAD v4: 10-77975820-C-CAGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77975824_77975827dup , CM000672.2:g.77975824_77975827dup	GRCh38
NC_000010.10:g.79735582_79735585dup , CM000672.1:g.79735582_79735585dup	GRCh37
NC_000010.9:g.79405588_79405591dup	NCBI36
NG_029648.1:g.58717_58720dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000698724.1:n.1941+4317_1941+4320dup
ENST00000698725.1:n.3497_3500dup
ENST00000698726.1:n.5057_5060dup
ENST00000698727.1:n.4790_4793dup
ENST00000698728.1:n.5406_5409dup
ENST00000698729.1:n.6854_6857dup
ENST00000698730.1:n.6952_6955dup
ENST00000698731.1:c.*1654_*1657dup	ENSP00000513898.1:n.*1654_*1657dup
ENST00000698732.1:c.*4516_*4519dup	ENSP00000513899.1:n.*4516_*4519dup
ENST00000698733.1:c.*5014_*5017dup	ENSP00000513900.1:n.*5014_*5017dup
ENST00000698734.1:c.*4000_*4003dup	ENSP00000513901.1:n.*4000_*4003dup
ENST00000698735.1:n.6178_6181dup
ENST00000698736.1:n.6591_6594dup
ENST00000372371.8:c.*1654_*1657dup MANE Select	ENSP00000361446.3:n.*1654_*1657dup
ENST00000372371.7:c.*1654_*1657dup	ENSP00000361446.3:n.*1654_*1657dup
ENST00000616246.4:c.472+4317_472+4320dup	ENSP00000483738.1:n.472+4317_472+4320dup
NM_007055.3:c.*1654_*1657dup	NP_008986.2:n.*1654_*1657dup
NM_007055.4:c.*1654_*1657dup MANE Select	NP_008986.2:n.*1654_*1657dup