{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA376881912",
  "communityStandardTitle": [
    "NM_152709.5(STOX1):c.1824A>T (p.Glu608Asp)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.70645376A>T?assembly=hg19",
        "id": "chr10:g.70645376A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.68885620A>T?assembly=hg38",
        "id": "chr10:g.68885620A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10509305",
        "rs": 10509305
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-70645376-A-T?dataset=gnomad_r2_1",
        "id": "10-70645376-A-T",
        "variant": "10:70645376 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-68885620-A-T?dataset=gnomad_r4",
        "id": "10-68885620-A-T",
        "variant": "10:68885620 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 68885620,
          "referenceAllele": "A",
          "start": 68885619
        }
      ],
      "hgvs": [
        "NC_000010.11:g.68885620A>T",
        "CM000672.2:g.68885620A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 70645376,
          "referenceAllele": "A",
          "start": 70645375
        }
      ],
      "hgvs": [
        "NC_000010.10:g.70645376A>T",
        "CM000672.1:g.70645376A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 70315382,
          "referenceAllele": "A",
          "start": 70315381
        }
      ],
      "hgvs": [
        "NC_000010.9:g.70315382A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 63083,
          "referenceAllele": "A",
          "start": 63082
        }
      ],
      "hgvs": [
        "NG_012975.1:g.63083A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002644"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 63084,
          "referenceAllele": "A",
          "start": 63083
        }
      ],
      "hgvs": [
        "NG_012975.2:g.63084A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673625"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1917,
          "referenceAllele": "A",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023508",
      "geneNCBI_id": 219736,
      "geneSymbol": "STOX1",
      "hgvs": [
        "ENST00000298596.11:c.1824A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298596.6:p.Glu608Asp",
        "hgvsWellDefined": "ENSP00000298596.6:p.Glu608Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298596.11:c.1824A>T"
          },
          "RefSeq": {
            "hgvs": "NM_152709.5:c.1824A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298596.6:p.Glu608Asp"
          },
          "RefSeq": {
            "hgvs": "NP_689922.3:p.Glu608Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2160,
          "referenceAllele": "A",
          "start": 2159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023508",
      "geneNCBI_id": 219736,
      "geneSymbol": "STOX1",
      "hgvs": [
        "ENST00000642869.1:c.2160A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494558.1:p.Glu720Asp",
        "hgvsWellDefined": "ENSP00000494558.1:p.Glu720Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766961"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1907,
          "referenceAllele": "A",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023508",
      "geneNCBI_id": 219736,
      "geneSymbol": "STOX1",
      "hgvs": [
        "ENST00000298596.10:c.1824A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298596.6:p.Glu608Asp",
        "hgvsWellDefined": "ENSP00000298596.6:p.Glu608Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254611"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 463,
          "endIntronDirection": "+",
          "endIntronOffset": 3510,
          "referenceAllele": "A",
          "start": 463,
          "startIntronDirection": "+",
          "startIntronOffset": 3509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023508",
      "geneNCBI_id": 219736,
      "geneSymbol": "STOX1",
      "hgvs": [
        "ENST00000399162.2:c.463+3510A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382115.2:n.463+3510A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 663,
          "endIntronDirection": "+",
          "endIntronOffset": 1161,
          "referenceAllele": "A",
          "start": 663,
          "startIntronDirection": "+",
          "startIntronOffset": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023508",
      "geneNCBI_id": 219736,
      "geneSymbol": "STOX1",
      "hgvs": [
        "ENST00000399165.8:c.663+1161A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382118.4:n.663+1161A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1907,
          "referenceAllele": "A",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023508",
      "geneNCBI_id": 219736,
      "geneSymbol": "STOX1",
      "hgvs": [
        "ENST00000399169.8:c.1824A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382121.4:p.Glu608Asp",
        "hgvsWellDefined": "ENSP00000382121.4:p.Glu608Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278580"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 750,
          "endIntronDirection": "+",
          "endIntronOffset": 1161,
          "referenceAllele": "A",
          "start": 750,
          "startIntronDirection": "+",
          "startIntronOffset": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023508",
      "geneNCBI_id": 219736,
      "geneSymbol": "STOX1",
      "hgvs": [
        "NM_001130159.2:c.663+1161A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123631.1:n.663+1161A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 550,
          "endIntronDirection": "+",
          "endIntronOffset": 3510,
          "referenceAllele": "A",
          "start": 550,
          "startIntronDirection": "+",
          "startIntronOffset": 3509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023508",
      "geneNCBI_id": 219736,
      "geneSymbol": "STOX1",
      "hgvs": [
        "NM_001130160.2:c.463+3510A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123632.1:n.463+3510A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012003"
    },
    {
      "@id": "http://reg.genome.network/allele/PA115166",
      "coordinates": [
        {
          "allele": "T",
          "end": 1911,
          "referenceAllele": "A",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023508",
      "geneNCBI_id": 219736,
      "geneSymbol": "STOX1",
      "hgvs": [
        "NM_001130161.2:c.1824A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123633.1:p.Glu608Asp",
        "hgvsWellDefined": "NP_001123633.1:p.Glu608Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916052099",
      "coordinates": [
        {
          "allele": "T",
          "end": 1911,
          "referenceAllele": "A",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023508",
      "geneNCBI_id": 219736,
      "geneSymbol": "STOX1",
      "hgvs": [
        "NM_152709.4:c.1824A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689922.3:p.Glu608Asp",
        "hgvsWellDefined": "NP_689922.3:p.Glu608Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1642,
          "referenceAllele": "A",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023508",
      "geneNCBI_id": 219736,
      "geneSymbol": "STOX1",
      "hgvs": [
        "XM_011539454.1:c.1494A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537756.1:p.Glu498Asp",
        "hgvsWellDefined": "XP_011537756.1:p.Glu498Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1642,
          "referenceAllele": "A",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023508",
      "geneNCBI_id": 219736,
      "geneSymbol": "STOX1",
      "hgvs": [
        "XM_011539454.2:c.1494A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537756.1:p.Glu498Asp",
        "hgvsWellDefined": "XP_011537756.1:p.Glu498Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553671"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916052099",
      "coordinates": [
        {
          "allele": "T",
          "end": 1917,
          "referenceAllele": "A",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023508",
      "geneNCBI_id": 219736,
      "geneSymbol": "STOX1",
      "hgvs": [
        "NM_152709.5:c.1824A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689922.3:p.Glu608Asp",
        "hgvsWellDefined": "NP_689922.3:p.Glu608Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672425",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298596.11:c.1824A>T"
          },
          "RefSeq": {
            "hgvs": "NM_152709.5:c.1824A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298596.6:p.Glu608Asp"
          },
          "RefSeq": {
            "hgvs": "NP_689922.3:p.Glu608Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA115166",
      "coordinates": [
        {
          "allele": "T",
          "end": 1917,
          "referenceAllele": "A",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023508",
      "geneNCBI_id": 219736,
      "geneSymbol": "STOX1",
      "hgvs": [
        "NM_001130161.3:c.1824A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123633.1:p.Glu608Asp",
        "hgvsWellDefined": "NP_001123633.1:p.Glu608Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677103"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "endIntronDirection": "+",
          "endIntronOffset": 1161,
          "referenceAllele": "A",
          "start": 756,
          "startIntronDirection": "+",
          "startIntronOffset": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023508",
      "geneNCBI_id": 219736,
      "geneSymbol": "STOX1",
      "hgvs": [
        "NM_001130159.3:c.663+1161A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123631.1:n.663+1161A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 556,
          "endIntronDirection": "+",
          "endIntronOffset": 3510,
          "referenceAllele": "A",
          "start": 556,
          "startIntronDirection": "+",
          "startIntronOffset": 3509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023508",
      "geneNCBI_id": 219736,
      "geneSymbol": "STOX1",
      "hgvs": [
        "NM_001130160.3:c.463+3510A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123632.1:n.463+3510A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712327"
    },
    {
      "@id": "http://reg.genome.network/allele/PA115166",
      "coordinates": [
        {
          "allele": "T",
          "end": 1917,
          "referenceAllele": "A",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023508",
      "geneNCBI_id": 219736,
      "geneSymbol": "STOX1",
      "hgvs": [
        "NM_001130161.4:c.1824A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123633.1:p.Glu608Asp",
        "hgvsWellDefined": "NP_001123633.1:p.Glu608Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712328"
    }
  ],
  "type": "nucleotide"
}