{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6746055",
  "communityStandardTitle": [
    "NM_024312.5(GNPTAB):c.3710G>A (p.Arg1237Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=322763[alleleid]",
        "alleleId": 322763,
        "preferredName": "NM_024312.5(GNPTAB):c.3710G>A (p.Arg1237Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/306793",
        "RCV": [
          "RCV000298245",
          "RCV000891973",
          "RCV000403989"
        ],
        "variationId": 306793
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-102141003-C-T",
        "id": "12-102141003-C-T",
        "variant": "12:102141003 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102141003C>T?assembly=hg19",
        "id": "chr12:g.102141003C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.101747225C>T?assembly=hg38",
        "id": "chr12:g.101747225C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/150841760",
        "rs": 150841760
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-102141003-C-T?dataset=gnomad_r2_1",
        "id": "12-102141003-C-T",
        "variant": "12:102141003 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-101747225-C-T?dataset=gnomad_r3",
        "id": "12-101747225-C-T",
        "variant": "12:101747225 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-101747225-C-T?dataset=gnomad_r4",
        "id": "12-101747225-C-T",
        "variant": "12:101747225 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 101747225,
          "referenceAllele": "C",
          "start": 101747224
        }
      ],
      "hgvs": [
        "NC_000012.12:g.101747225C>T",
        "CM000674.2:g.101747225C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 102141003,
          "referenceAllele": "C",
          "start": 102141002
        }
      ],
      "hgvs": [
        "NC_000012.11:g.102141003C>T",
        "CM000674.1:g.102141003C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 100665134,
          "referenceAllele": "C",
          "start": 100665133
        }
      ],
      "hgvs": [
        "NC_000012.10:g.100665134C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 88643,
          "referenceAllele": "G",
          "start": 88642
        }
      ],
      "hgvs": [
        "NG_021243.1:g.88643G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003506"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3994,
          "referenceAllele": "G",
          "start": 3993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.12:c.3710G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Arg1237Gln",
        "hgvsWellDefined": "ENSP00000299314.7:p.Arg1237Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744661",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.3710G>A"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.3710G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Arg1237Gln"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Arg1237Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3973,
          "referenceAllele": "G",
          "start": 3972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.11:c.3710G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Arg1237Gln",
        "hgvsWellDefined": "ENSP00000299314.7:p.Arg1237Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254703"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645390897",
      "coordinates": [
        {
          "allele": "A",
          "end": 3902,
          "referenceAllele": "G",
          "start": 3901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.4:c.3710G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Arg1237Gln",
        "hgvsWellDefined": "NP_077288.2:p.Arg1237Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4443,
          "referenceAllele": "G",
          "start": 4442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.1:c.3629G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Arg1210Gln",
        "hgvsWellDefined": "XP_011537033.1:p.Arg1210Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3898,
          "referenceAllele": "G",
          "start": 3897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.2:c.3629G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Arg1210Gln",
        "hgvsWellDefined": "XP_011537033.1:p.Arg1210Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3799,
          "referenceAllele": "G",
          "start": 3798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019961.1:c.3494G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875450.1:p.Arg1165Gln",
        "hgvsWellDefined": "XP_016875450.1:p.Arg1165Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3976,
          "referenceAllele": "G",
          "start": 3975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019962.2:c.2483G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875451.1:p.Arg828Gln",
        "hgvsWellDefined": "XP_016875451.1:p.Arg828Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3014,
          "endIntronDirection": "-",
          "endIntronOffset": 1324,
          "referenceAllele": "C",
          "start": 3014,
          "startIntronDirection": "-",
          "startIntronOffset": 1325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017852",
      "geneNCBI_id": 56994,
      "geneSymbol": "CHPT1",
      "hgvs": [
        "XR_001748817.1:n.3015-1325C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596760"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645390897",
      "coordinates": [
        {
          "allele": "A",
          "end": 3994,
          "referenceAllele": "G",
          "start": 3993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.5:c.3710G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Arg1237Gln",
        "hgvsWellDefined": "NP_077288.2:p.Arg1237Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670629",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.3710G>A"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.3710G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Arg1237Gln"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Arg1237Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}