Canonical Allele Identifier: CA464295264
Gene: TOPORS HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.32550841T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32550843T>A , CM000671.2:g.32550843T>A GRCh38
NC_000009.11:g.32550841T>A , CM000671.1:g.32550841T>A GRCh37
NC_000009.10:g.32540841T>A NCBI36
NG_017050.1:g.6782A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360538.7:c.129A>T MANE Select ENSP00000353735.2:p.Arg43=
ENST00000680198.1:c.129A>T ENSP00000505143.1:p.Arg43=
ENST00000681750.1:c.-114A>T ENSP00000506413.1:n.-114A>T
ENST00000360538.6:c.129A>T ENSP00000353735.2:p.Arg43=
ENST00000379858.1:c.3+1591A>T ENSP00000369187.1:n.3+1591A>T
NM_001195622.1:c.3+1591A>T NP_001182551.1:n.3+1591A>T
NM_005802.4:c.129A>T NP_005793.2:p.Arg43=
NM_005802.5:c.129A>T MANE Select NP_005793.2:p.Arg43=
NM_001195622.2:c.3+1591A>T NP_001182551.1:n.3+1591A>T