Canonical Allele Identifier: CA464295368

Gene: TOPORS

Linked Data

• dbSNP Id: rs1412023992
• gnomAD v4: 9-32550948-C-T
• MyVariant Identifiers: chr9:g.32550946C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32550948C>T , CM000671.2:g.32550948C>T	GRCh38
NC_000009.11:g.32550946C>T , CM000671.1:g.32550946C>T	GRCh37
NC_000009.10:g.32540946C>T	NCBI36
NG_017050.1:g.6677G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.24G>A MANE Select	ENSP00000353735.2:p.Gly8=
ENST00000680198.1:c.24G>A	ENSP00000505143.1:p.Gly8=
ENST00000681750.1:c.-219G>A	ENSP00000506413.1:n.-219G>A
ENST00000360538.6:c.24G>A	ENSP00000353735.2:p.Gly8=
ENST00000379858.1:c.3+1486G>A	ENSP00000369187.1:n.3+1486G>A
NM_001195622.1:c.3+1486G>A	NP_001182551.1:n.3+1486G>A
NM_005802.4:c.24G>A	NP_005793.2:p.Gly8=
NM_005802.5:c.24G>A MANE Select	NP_005793.2:p.Gly8=
NM_001195622.2:c.3+1486G>A	NP_001182551.1:n.3+1486G>A