Canonical Allele Identifier: CA5020723

Gene: TOPORS

Linked Data

• dbSNP Id: rs769343027
• ExAC: 9:32550861 G / T
• gnomAD v2: 9-32550861-G-T
• gnomAD v4: 9-32550863-G-T
• MyVariant Identifiers: chr9:g.32550861G>T (hg19) ; chr9:g.32550863G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32550863G>T , CM000671.2:g.32550863G>T	GRCh38
NC_000009.11:g.32550861G>T , CM000671.1:g.32550861G>T	GRCh37
NC_000009.10:g.32540861G>T	NCBI36
NG_017050.1:g.6762C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.109C>A MANE Select	ENSP00000353735.2:p.Arg37Ser
ENST00000680198.1:c.109C>A	ENSP00000505143.1:p.Arg37Ser
ENST00000681750.1:c.-134C>A	ENSP00000506413.1:n.-134C>A
ENST00000360538.6:c.109C>A	ENSP00000353735.2:p.Arg37Ser
ENST00000379858.1:c.3+1571C>A	ENSP00000369187.1:n.3+1571C>A
NM_001195622.1:c.3+1571C>A	NP_001182551.1:n.3+1571C>A
NM_005802.4:c.109C>A	NP_005793.2:p.Arg37Ser
NM_005802.5:c.109C>A MANE Select	NP_005793.2:p.Arg37Ser
NM_001195622.2:c.3+1571C>A	NP_001182551.1:n.3+1571C>A