{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3600384",
  "communityStandardTitle": [
    "NM_003900.5(SQSTM1):c.185G>T (p.Gly62Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=576803[alleleid]",
        "alleleId": 576803,
        "preferredName": "NM_003900.5(SQSTM1):c.185G>T (p.Gly62Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/586684",
        "RCV": [
          "RCV000713545",
          "RCV001422461"
        ],
        "variationId": 586684
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-179248121-G-T",
        "id": "5-179248121-G-T",
        "variant": "5:179248121 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.179248121G>T?assembly=hg19",
        "id": "chr5:g.179248121G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.179821121G>T?assembly=hg38",
        "id": "chr5:g.179821121G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/774355338",
        "rs": 774355338
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-179248121-G-T?dataset=gnomad_r2_1",
        "id": "5-179248121-G-T",
        "variant": "5:179248121 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-179821121-G-T?dataset=gnomad_r3",
        "id": "5-179821121-G-T",
        "variant": "5:179821121 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-179821121-G-T?dataset=gnomad_r4",
        "id": "5-179821121-G-T",
        "variant": "5:179821121 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 179821121,
          "referenceAllele": "G",
          "start": 179821120
        }
      ],
      "hgvs": [
        "NC_000005.10:g.179821121G>T",
        "CM000667.2:g.179821121G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 179248121,
          "referenceAllele": "G",
          "start": 179248120
        }
      ],
      "hgvs": [
        "NC_000005.9:g.179248121G>T",
        "CM000667.1:g.179248121G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 179180727,
          "referenceAllele": "G",
          "start": 179180726
        }
      ],
      "hgvs": [
        "NC_000005.8:g.179180727G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19734,
          "referenceAllele": "G",
          "start": 19733
        }
      ],
      "hgvs": [
        "NG_011342.1:g.19734G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001707"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 217,
          "referenceAllele": "G",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011280",
      "geneNCBI_id": 8878,
      "geneSymbol": "SQSTM1",
      "hgvs": [
        "ENST00000389805.9:c.185G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374455.4:p.Gly62Val",
        "hgvsWellDefined": "ENSP00000374455.4:p.Gly62Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752842",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389805.9:c.185G>T"
          },
          "RefSeq": {
            "hgvs": "NM_003900.5:c.185G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374455.4:p.Gly62Val"
          },
          "RefSeq": {
            "hgvs": "NP_003891.1:p.Gly62Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 363,
          "referenceAllele": "G",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011280",
      "geneNCBI_id": 8878,
      "geneSymbol": "SQSTM1",
      "hgvs": [
        "ENST00000389805.8:c.185G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374455.4:p.Gly62Val",
        "hgvsWellDefined": "ENSP00000374455.4:p.Gly62Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274294"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 160,
          "endIntronDirection": "-",
          "endIntronOffset": 1836,
          "referenceAllele": "G",
          "start": 160,
          "startIntronDirection": "-",
          "startIntronOffset": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011280",
      "geneNCBI_id": 8878,
      "geneSymbol": "SQSTM1",
      "hgvs": [
        "ENST00000422245.5:c.-47-1837G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394534.1:n.-47-1837G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 217,
          "referenceAllele": "G",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011280",
      "geneNCBI_id": 8878,
      "geneSymbol": "SQSTM1",
      "hgvs": [
        "ENST00000453046.5:c.185G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405061.1:p.Gly62Val",
        "hgvsWellDefined": "ENSP00000405061.1:p.Gly62Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 100,
          "endIntronDirection": "+",
          "endIntronOffset": 415,
          "referenceAllele": "G",
          "start": 100,
          "startIntronDirection": "+",
          "startIntronOffset": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011280",
      "geneNCBI_id": 8878,
      "geneSymbol": "SQSTM1",
      "hgvs": [
        "ENST00000464493.5:n.100+415G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 355,
          "endIntronDirection": "+",
          "endIntronOffset": 734,
          "referenceAllele": "G",
          "start": 355,
          "startIntronDirection": "+",
          "startIntronOffset": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011280",
      "geneNCBI_id": 8878,
      "geneSymbol": "SQSTM1",
      "hgvs": [
        "ENST00000481335.5:n.355+734G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 217,
          "referenceAllele": "G",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011280",
      "geneNCBI_id": 8878,
      "geneSymbol": "SQSTM1",
      "hgvs": [
        "ENST00000504627.1:c.185G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425957.1:p.Gly62Val",
        "hgvsWellDefined": "ENSP00000425957.1:p.Gly62Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 244,
          "referenceAllele": "G",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011280",
      "geneNCBI_id": 8878,
      "geneSymbol": "SQSTM1",
      "hgvs": [
        "ENST00000508284.5:c.185G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424195.1:p.Gly62Val",
        "hgvsWellDefined": "ENSP00000424195.1:p.Gly62Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 201,
          "referenceAllele": "G",
          "start": 200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011280",
      "geneNCBI_id": 8878,
      "geneSymbol": "SQSTM1",
      "hgvs": [
        "ENST00000510187.5:c.185G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424477.1:p.Gly62Val",
        "hgvsWellDefined": "ENSP00000424477.1:p.Gly62Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 293,
          "endIntronDirection": "-",
          "endIntronOffset": 1836,
          "referenceAllele": "G",
          "start": 293,
          "startIntronDirection": "-",
          "startIntronOffset": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011280",
      "geneNCBI_id": 8878,
      "geneSymbol": "SQSTM1",
      "hgvs": [
        "ENST00000514093.5:c.-47-1837G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427308.1:n.-47-1837G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343668"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 237,
          "referenceAllele": "G",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011280",
      "geneNCBI_id": 8878,
      "geneSymbol": "SQSTM1",
      "hgvs": [
        "ENST00000626660.1:c.185G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487071.1:p.Gly62Val",
        "hgvsWellDefined": "ENSP00000487071.1:p.Gly62Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406768"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 313,
          "endIntronDirection": "-",
          "endIntronOffset": 1836,
          "referenceAllele": "G",
          "start": 313,
          "startIntronDirection": "-",
          "startIntronOffset": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011280",
      "geneNCBI_id": 8878,
      "geneSymbol": "SQSTM1",
      "hgvs": [
        "NM_001142298.1:c.-47-1837G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135770.1:n.-47-1837G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012816"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 230,
          "endIntronDirection": "-",
          "endIntronOffset": 1836,
          "referenceAllele": "G",
          "start": 230,
          "startIntronDirection": "-",
          "startIntronOffset": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011280",
      "geneNCBI_id": 8878,
      "geneSymbol": "SQSTM1",
      "hgvs": [
        "NM_001142299.1:c.-47-1837G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135771.1:n.-47-1837G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012817"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891851957",
      "coordinates": [
        {
          "allele": "T",
          "end": 280,
          "referenceAllele": "G",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011280",
      "geneNCBI_id": 8878,
      "geneSymbol": "SQSTM1",
      "hgvs": [
        "NM_003900.4:c.185G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003891.1:p.Gly62Val",
        "hgvsWellDefined": "NP_003891.1:p.Gly62Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029113"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891851957",
      "coordinates": [
        {
          "allele": "T",
          "end": 217,
          "referenceAllele": "G",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011280",
      "geneNCBI_id": 8878,
      "geneSymbol": "SQSTM1",
      "hgvs": [
        "NM_003900.5:c.185G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003891.1:p.Gly62Val",
        "hgvsWellDefined": "NP_003891.1:p.Gly62Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666237",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389805.9:c.185G>T"
          },
          "RefSeq": {
            "hgvs": "NM_003900.5:c.185G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374455.4:p.Gly62Val"
          },
          "RefSeq": {
            "hgvs": "NP_003891.1:p.Gly62Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 308,
          "endIntronDirection": "-",
          "endIntronOffset": 1836,
          "referenceAllele": "G",
          "start": 308,
          "startIntronDirection": "-",
          "startIntronOffset": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011280",
      "geneNCBI_id": 8878,
      "geneSymbol": "SQSTM1",
      "hgvs": [
        "NM_001142298.2:c.-47-1837G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135770.1:n.-47-1837G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677497"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 224,
          "endIntronDirection": "-",
          "endIntronOffset": 1836,
          "referenceAllele": "G",
          "start": 224,
          "startIntronDirection": "-",
          "startIntronOffset": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011280",
      "geneNCBI_id": 8878,
      "geneSymbol": "SQSTM1",
      "hgvs": [
        "NM_001142299.2:c.-47-1837G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135771.1:n.-47-1837G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677498"
    }
  ],
  "type": "nucleotide"
}