Canonical Allele Identifier: CA8430209

Gene: TOP3A

Linked Data

• dbSNP Id: rs781459953
• ExAC: 17:18208425 C / A
• gnomAD v2: 17-18208425-C-A
• gnomAD v4: 17-18305111-C-A
• MyVariant Identifiers: chr17:g.18208425C>A (hg19) ; chr17:g.18305111C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18305111C>A , CM000679.2:g.18305111C>A	GRCh38
NC_000017.10:g.18208425C>A , CM000679.1:g.18208425C>A	GRCh37
NC_000017.9:g.18149150C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000321105.10:c.499+1G>T MANE Select	ENSP00000321636.5:n.499+1G>T
ENST00000321105.9:c.499+1G>T	ENSP00000321636.5:n.499+1G>T
ENST00000461127.5:c.*117+1G>T	ENSP00000464338.1:n.*117+1G>T
ENST00000469739.6:n.378+1G>T
ENST00000542570.5:c.499+1G>T	ENSP00000442336.2:n.499+1G>T
ENST00000580095.5:c.424+1G>T	ENSP00000462790.1:n.424+1G>T
ENST00000582981.5:c.*155+1G>T	ENSP00000462378.1:n.*155+1G>T
ENST00000584582.5:c.*155+1G>T	ENSP00000462136.1:n.*155+1G>T
ENST00000584669.5:n.542+1780G>T
NM_004618.3:c.499+1G>T	NP_004609.1:n.499+1G>T
XM_005256776.2:c.214+1G>T	XP_005256833.1:n.214+1G>T
XM_011524000.1:c.499+1G>T	XP_011522302.1:n.499+1G>T
XM_011524001.1:c.-704+1G>T	XP_011522303.1:n.-704+1G>T
NM_001320759.1:c.214+1G>T	NP_001307688.1:n.214+1G>T
NM_004618.4:c.499+1G>T	NP_004609.1:n.499+1G>T
XM_011524001.2:c.-704+1G>T	XP_011522303.1:n.-704+1G>T
XM_024450903.1:c.-423+1G>T	XP_024306671.1:n.-423+1G>T
XR_001752601.2:n.717+1G>T
NM_004618.5:c.499+1G>T MANE Select	NP_004609.1:n.499+1G>T
NM_001320759.2:c.214+1G>T	NP_001307688.1:n.214+1G>T