Canonical Allele Identifier: CA594710676

Gene: POLR3A

Linked Data

• dbSNP Id: rs1420223272
• gnomAD v2: 10-79769578-CACAT-C
• gnomAD v3: 10-78009820-CACAT-C
• gnomAD v4: 10-78009820-CACAT-C
• MyVariant Identifiers: chr10:g.79769579_79769582del (hg19) ; chr10:g.78009821_78009824del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009824_78009827del , CM000672.2:g.78009824_78009827del	GRCh38
NC_000010.10:g.79769582_79769585del , CM000672.1:g.79769582_79769585del	GRCh37
NC_000010.9:g.79439588_79439591del	NCBI36
NG_029648.1:g.24717_24720del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698728.1:n.1349+40_1349+43del
ENST00000698729.1:n.2895+40_2895+43del
ENST00000698730.1:n.2895+40_2895+43del
ENST00000698731.1:c.1629+40_1629+43del	ENSP00000513898.1:n.1629+40_1629+43del
ENST00000698732.1:c.*631+40_*631+43del	ENSP00000513899.1:n.*631+40_*631+43del
ENST00000698733.1:c.*957+40_*957+43del	ENSP00000513900.1:n.*957+40_*957+43del
ENST00000698734.1:c.1770+40_1770+43del	ENSP00000513901.1:n.1770+40_1770+43del
ENST00000698735.1:n.1885+40_1885+43del
ENST00000698736.1:n.1885+40_1885+43del
ENST00000698737.1:n.1885+40_1885+43del
ENST00000698738.1:n.1885+40_1885+43del
ENST00000698739.1:n.1885+40_1885+43del
ENST00000372371.8:c.1770+40_1770+43del MANE Select	ENSP00000361446.3:n.1770+40_1770+43del
ENST00000372371.7:c.1770+40_1770+43del	ENSP00000361446.3:n.1770+40_1770+43del
ENST00000473588.2:c.572+40_572+43del
NM_007055.3:c.1770+40_1770+43del	NP_008986.2:n.1770+40_1770+43del
NM_007055.4:c.1770+40_1770+43del MANE Select	NP_008986.2:n.1770+40_1770+43del