Canonical Allele Identifier: CA373173547

Gene: TOPORS

Linked Data

• dbSNP Id: rs1162411785
• gnomAD v2: 9-32550858-C-T
• MyVariant Identifiers: chr9:g.32550858C>T (hg19) ; chr9:g.32550860C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32550860C>T , CM000671.2:g.32550860C>T	GRCh38
NC_000009.11:g.32550858C>T , CM000671.1:g.32550858C>T	GRCh37
NC_000009.10:g.32540858C>T	NCBI36
NG_017050.1:g.6765G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.112G>A MANE Select	ENSP00000353735.2:p.Gly38Arg
ENST00000680198.1:c.112G>A	ENSP00000505143.1:p.Gly38Arg
ENST00000681750.1:c.-131G>A	ENSP00000506413.1:n.-131G>A
ENST00000360538.6:c.112G>A	ENSP00000353735.2:p.Gly38Arg
ENST00000379858.1:c.3+1574G>A	ENSP00000369187.1:n.3+1574G>A
NM_001195622.1:c.3+1574G>A	NP_001182551.1:n.3+1574G>A
NM_005802.4:c.112G>A	NP_005793.2:p.Gly38Arg
NM_005802.5:c.112G>A MANE Select	NP_005793.2:p.Gly38Arg
NM_001195622.2:c.3+1574G>A	NP_001182551.1:n.3+1574G>A