Canonical Allele Identifier: CA5681578
Gene: GSTO1 HGNC NCBI
COSMIC:
COSM147037 (not active)
MyVariant.info:
GRCh38 chr10:g.104263031C>A
GRCh37 chr10:g.106022789C>A
Revel Score:
ENST00000539281 0.053
ENST00000369713 (MANE Select) 0.053
ENST00000445155 0.053
gnomAD v2:
10:106022789 C / A
gnomAD v3:
10:104263031 C / A
gnomAD v4:
chr10-104263031-C-A
Joint Max Group AF 0.30654988 (MID)
Genomes Max Group AF 0.31190259 (NFE)
Exomes Max Group AF 0.30479435 (MID)
ClinVar RCV:
RCV003974574
ClinVar Variation:
3059603
dbSNP:
4925
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104263031C>A , CM000672.2:g.104263031C>A GRCh38
NC_000010.10:g.106022789C>A , CM000672.1:g.106022789C>A GRCh37
NC_000010.9:g.106012779C>A NCBI36
NG_023362.1:g.13838C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369713.10:c.419C>A MANE Select ENSP00000358727.5:p.Ala140Asp
ENST00000369710.8:c.367-3053C>A ENSP00000358724.4:n.367-3053C>A
ENST00000369713.9:c.419C>A ENSP00000358727.5:p.Ala140Asp
ENST00000432659.1:c.283-3053C>A ENSP00000405325.1:n.283-3053C>A
ENST00000445155.5:c.335C>A ENSP00000406708.1:p.Ala112Asp
ENST00000493946.1:n.721C>A
ENST00000539281.5:c.335C>A ENSP00000441488.1:p.Ala112Asp
NM_001191002.1:c.367-3053C>A NP_001177931.1:n.367-3053C>A
NM_001191003.1:c.335C>A NP_001177932.1:p.Ala112Asp
NM_004832.2:c.419C>A NP_004823.1:p.Ala140Asp
NM_004832.3:c.419C>A MANE Select NP_004823.1:p.Ala140Asp
NM_001191002.2:c.367-3053C>A NP_001177931.1:n.367-3053C>A
NM_001191003.2:c.335C>A NP_001177932.1:p.Ala112Asp
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