Canonical Allele Identifier: CA192365613

Gene: TOPORS

Linked Data

• dbSNP Id: rs753950095
• gnomAD v4: 9-32550805-G-T
• MyVariant Identifiers: chr9:g.32550803G>T (hg19) ; chr9:g.32550805G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32550805G>T , CM000671.2:g.32550805G>T	GRCh38
NC_000009.11:g.32550803G>T , CM000671.1:g.32550803G>T	GRCh37
NC_000009.10:g.32540803G>T	NCBI36
NG_017050.1:g.6820C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360538.7:c.167C>A MANE Select	ENSP00000353735.2:p.Ala56Asp
ENST00000680198.1:c.167C>A	ENSP00000505143.1:p.Ala56Asp
ENST00000681750.1:c.-76C>A	ENSP00000506413.1:n.-76C>A
ENST00000360538.6:c.167C>A	ENSP00000353735.2:p.Ala56Asp
ENST00000379858.1:c.3+1629C>A	ENSP00000369187.1:n.3+1629C>A
NM_001195622.1:c.3+1629C>A	NP_001182551.1:n.3+1629C>A
NM_005802.4:c.167C>A	NP_005793.2:p.Ala56Asp
NM_005802.5:c.167C>A MANE Select	NP_005793.2:p.Ala56Asp
NM_001195622.2:c.3+1629C>A	NP_001182551.1:n.3+1629C>A