Canonical Allele Identifier: CA373173468

Gene: TOPORS

Linked Data

• dbSNP Id: rs1289477434
• gnomAD v2: 9-32550836-C-A
• gnomAD v4: 9-32550838-C-A
• MyVariant Identifiers: chr9:g.32550836C>A (hg19) ; chr9:g.32550838C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32550838C>A , CM000671.2:g.32550838C>A	GRCh38
NC_000009.11:g.32550836C>A , CM000671.1:g.32550836C>A	GRCh37
NC_000009.10:g.32540836C>A	NCBI36
NG_017050.1:g.6787G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.134G>T MANE Select	ENSP00000353735.2:p.Ser45Ile
ENST00000680198.1:c.134G>T	ENSP00000505143.1:p.Ser45Ile
ENST00000681750.1:c.-109G>T	ENSP00000506413.1:n.-109G>T
ENST00000360538.6:c.134G>T	ENSP00000353735.2:p.Ser45Ile
ENST00000379858.1:c.3+1596G>T	ENSP00000369187.1:n.3+1596G>T
NM_001195622.1:c.3+1596G>T	NP_001182551.1:n.3+1596G>T
NM_005802.4:c.134G>T	NP_005793.2:p.Ser45Ile
NM_005802.5:c.134G>T MANE Select	NP_005793.2:p.Ser45Ile
NM_001195622.2:c.3+1596G>T	NP_001182551.1:n.3+1596G>T