Canonical Allele Identifier: CA373173376
Gene: TOPORS HGNC NCBI

Linked Data

gnomAD v4: 9-32550814-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32550814G>A , CM000671.2:g.32550814G>A GRCh38
NC_000009.11:g.32550812G>A , CM000671.1:g.32550812G>A GRCh37
NC_000009.10:g.32540812G>A NCBI36
NG_017050.1:g.6811C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360538.7:c.158C>T MANE Select ENSP00000353735.2:p.Ala53Val
ENST00000680198.1:c.158C>T ENSP00000505143.1:p.Ala53Val
ENST00000681750.1:c.-85C>T ENSP00000506413.1:n.-85C>T
ENST00000360538.6:c.158C>T ENSP00000353735.2:p.Ala53Val
ENST00000379858.1:c.3+1620C>T ENSP00000369187.1:n.3+1620C>T
NM_001195622.1:c.3+1620C>T NP_001182551.1:n.3+1620C>T
NM_005802.4:c.158C>T NP_005793.2:p.Ala53Val
NM_005802.5:c.158C>T MANE Select NP_005793.2:p.Ala53Val
NM_001195622.2:c.3+1620C>T NP_001182551.1:n.3+1620C>T