Canonical Allele Identifier: CA8430212

Gene: TOP3A

Linked Data

• ClinVar Variation Id: 1906951
• ClinVar RCV Id: RCV002577864
• dbSNP Id: rs368812609
• ExAC: 17:18208439 G / A
• gnomAD v2: 17-18208439-G-A
• gnomAD v3: 17-18305125-G-A
• gnomAD v4: 17-18305125-G-A
• MyVariant Identifiers: chr17:g.18208439G>A (hg19) ; chr17:g.18305125G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18305125G>A , CM000679.2:g.18305125G>A	GRCh38
NC_000017.10:g.18208439G>A , CM000679.1:g.18208439G>A	GRCh37
NC_000017.9:g.18149164G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000321105.10:c.486C>T MANE Select	ENSP00000321636.5:p.His162=
ENST00000321105.9:c.486C>T	ENSP00000321636.5:p.His162=
ENST00000461127.5:c.*104C>T	ENSP00000464338.1:n.*104C>T
ENST00000469739.6:n.365C>T
ENST00000542570.5:c.486C>T	ENSP00000442336.2:p.His162=
ENST00000580095.5:c.411C>T	ENSP00000462790.1:p.His137=
ENST00000582981.5:c.*142C>T	ENSP00000462378.1:n.*142C>T
ENST00000584582.5:c.*142C>T	ENSP00000462136.1:n.*142C>T
ENST00000584669.5:n.542+1766C>T
NM_004618.3:c.486C>T	NP_004609.1:p.His162=
XM_005256776.2:c.201C>T	XP_005256833.1:p.His67=
XM_011524000.1:c.486C>T	XP_011522302.1:p.His162=
XM_011524001.1:c.-717C>T	XP_011522303.1:n.-717C>T
NM_001320759.1:c.201C>T	NP_001307688.1:p.His67=
NM_004618.4:c.486C>T	NP_004609.1:p.His162=
XM_011524001.2:c.-717C>T	XP_011522303.1:n.-717C>T
XM_024450903.1:c.-436C>T	XP_024306671.1:n.-436C>T
XR_001752601.2:n.704C>T
NM_004618.5:c.486C>T MANE Select	NP_004609.1:p.His162=
NM_001320759.2:c.201C>T	NP_001307688.1:p.His67=