Canonical Allele Identifier: CA5571351

Gene: POLR3A

Linked Data

• dbSNP Id: rs746735064
• ExAC: 10:79769654 TA / T
• gnomAD v3: 10-78009896-TA-T
• gnomAD v4: 10-78009896-TA-T
• MyVariant Identifiers: chr10:g.79769655del (hg19) ; chr10:g.78009897del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009898del , CM000672.2:g.78009898del	GRCh38
NC_000010.10:g.79769656del , CM000672.1:g.79769656del	GRCh37
NC_000010.9:g.79439662del	NCBI36
NG_029648.1:g.24644del

Transcript Alleles

HGVS	Amino-acid change
ENST00000698728.1:n.1316del
ENST00000698729.1:n.2862del
ENST00000698730.1:n.2862del
ENST00000698731.1:c.1596del	ENSP00000513898.1:p.Val534PhefsTer9
ENST00000698732.1:c.*598del	ENSP00000513899.1:n.*598del
ENST00000698733.1:c.*924del	ENSP00000513900.1:n.*924del
ENST00000698734.1:c.1737del	ENSP00000513901.1:p.Val581PhefsTer9
ENST00000698735.1:n.1852del
ENST00000698736.1:n.1852del
ENST00000698737.1:n.1852del
ENST00000698738.1:n.1852del
ENST00000698739.1:n.1852del
ENST00000372371.8:c.1737del MANE Select	ENSP00000361446.3:p.Val581PhefsTer9
ENST00000372371.7:c.1737del	ENSP00000361446.3:p.Val581PhefsTer9
ENST00000473588.2:c.539del
NM_007055.3:c.1737del	NP_008986.2:p.Val581PhefsTer9
NM_007055.4:c.1737del MANE Select	NP_008986.2:p.Val581PhefsTer9