{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA378638384",
  "communityStandardTitle": [
    "NM_000274.4(OAT):c.1A>G (p.Met1Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1061873[alleleid]",
        "alleleId": 1061873,
        "preferredName": "NM_000274.4(OAT):c.1A>G (p.Met1Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1072790",
        "RCV": [
          "RCV001385599"
        ],
        "variationId": 1072790
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.126100740T>C?assembly=hg19",
        "id": "chr10:g.126100740T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.124412171T>C?assembly=hg38",
        "id": "chr10:g.124412171T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1283361732",
        "rs": 1283361732
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-126100740-T-C?dataset=gnomad_r2_1",
        "id": "10-126100740-T-C",
        "variant": "10:126100740 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-124412171-T-C?dataset=gnomad_r4",
        "id": "10-124412171-T-C",
        "variant": "10:124412171 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 124412171,
          "referenceAllele": "T",
          "start": 124412170
        }
      ],
      "hgvs": [
        "NC_000010.11:g.124412171T>C",
        "CM000672.2:g.124412171T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 126100740,
          "referenceAllele": "T",
          "start": 126100739
        }
      ],
      "hgvs": [
        "NC_000010.10:g.126100740T>C",
        "CM000672.1:g.126100740T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 126090730,
          "referenceAllele": "T",
          "start": 126090729
        }
      ],
      "hgvs": [
        "NC_000010.9:g.126090730T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11780,
          "referenceAllele": "A",
          "start": 11779
        }
      ],
      "hgvs": [
        "NG_008861.1:g.11780A>G",
        "LRG_685:g.11780A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001256"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 81,
          "referenceAllele": "A",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000368845.6:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357838.5:p.Met1Val",
        "hgvsWellDefined": "ENSP00000357838.5:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750301",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368845.6:c.1A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000274.4:c.1A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357838.5:p.Met1Val"
          },
          "RefSeq": {
            "hgvs": "NP_000265.1:p.Met1Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 94,
          "referenceAllele": "A",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000368845.5:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357838.5:p.Met1Val",
        "hgvsWellDefined": "ENSP00000357838.5:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267213"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 66,
          "referenceAllele": "A",
          "start": 65
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000476917.5:n.66A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317854"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 237,
          "referenceAllele": "A",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000490096.5:n.237A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 349,
          "referenceAllele": "A",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000492376.1:n.349A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329770"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 104,
          "endIntronDirection": "-",
          "endIntronOffset": 3205,
          "referenceAllele": "A",
          "start": 104,
          "startIntronDirection": "-",
          "startIntronOffset": 3206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000539214.5:c.-215-3206A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439042.1:n.-215-3206A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825136791",
      "coordinates": [
        {
          "allele": "G",
          "end": 134,
          "referenceAllele": "A",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_000274.3:c.1A>G",
        "LRG_685t1:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000265.1:p.Met1Val",
        "hgvsWellDefined": "NP_000265.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006336"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 104,
          "endIntronDirection": "-",
          "endIntronOffset": 3205,
          "referenceAllele": "A",
          "start": 104,
          "startIntronDirection": "-",
          "startIntronOffset": 3206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001171814.1:c.-215-3206A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165285.1:n.-215-3206A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 168,
          "referenceAllele": "A",
          "start": 167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "XM_006717871.2:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717934.1:p.Met1Val",
        "hgvsWellDefined": "XP_006717934.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072355"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 237,
          "referenceAllele": "A",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "XM_011539833.1:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538135.1:p.Met1Val",
        "hgvsWellDefined": "XP_011538135.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106783"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 150,
          "referenceAllele": "A",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "XM_011539834.1:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538136.1:p.Met1Val",
        "hgvsWellDefined": "XP_011538136.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106784"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827180775",
      "coordinates": [
        {
          "allele": "G",
          "end": 129,
          "referenceAllele": "A",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322965.1:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309894.1:p.Met1Val",
        "hgvsWellDefined": "NP_001309894.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515201"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181138",
      "coordinates": [
        {
          "allele": "G",
          "end": 449,
          "referenceAllele": "A",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322966.1:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309895.1:p.Met1Val",
        "hgvsWellDefined": "NP_001309895.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515202"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181501",
      "coordinates": [
        {
          "allele": "G",
          "end": 254,
          "referenceAllele": "A",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322967.1:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309896.1:p.Met1Val",
        "hgvsWellDefined": "NP_001309896.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181865",
      "coordinates": [
        {
          "allele": "G",
          "end": 341,
          "referenceAllele": "A",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322968.1:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309897.1:p.Met1Val",
        "hgvsWellDefined": "NP_001309897.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827182227",
      "coordinates": [
        {
          "allele": "G",
          "end": 221,
          "referenceAllele": "A",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322969.1:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309898.1:p.Met1Val",
        "hgvsWellDefined": "NP_001309898.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515205"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827182591",
      "coordinates": [
        {
          "allele": "G",
          "end": 437,
          "referenceAllele": "A",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322970.1:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309899.1:p.Met1Val",
        "hgvsWellDefined": "NP_001309899.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499248958",
      "coordinates": [
        {
          "allele": "G",
          "end": 134,
          "referenceAllele": "A",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322971.1:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309900.1:p.Met1Val",
        "hgvsWellDefined": "NP_001309900.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515207"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 104,
          "endIntronDirection": "-",
          "endIntronOffset": 3205,
          "referenceAllele": "A",
          "start": 104,
          "startIntronDirection": "-",
          "startIntronOffset": 3206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322974.1:c.-515-3206A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309903.1:n.-515-3206A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515208"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 76,
          "referenceAllele": "A",
          "start": 75
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "XM_017016279.1:c.-2453A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871768.1:n.-2453A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568769"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825136791",
      "coordinates": [
        {
          "allele": "G",
          "end": 81,
          "referenceAllele": "A",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_000274.4:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000265.1:p.Met1Val",
        "hgvsWellDefined": "NP_000265.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674772",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368845.6:c.1A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000274.4:c.1A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357838.5:p.Met1Val"
          },
          "RefSeq": {
            "hgvs": "NP_000265.1:p.Met1Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827180775",
      "coordinates": [
        {
          "allele": "G",
          "end": 76,
          "referenceAllele": "A",
          "start": 75
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322965.2:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309894.1:p.Met1Val",
        "hgvsWellDefined": "NP_001309894.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685878"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181138",
      "coordinates": [
        {
          "allele": "G",
          "end": 396,
          "referenceAllele": "A",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322966.2:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309895.1:p.Met1Val",
        "hgvsWellDefined": "NP_001309895.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181501",
      "coordinates": [
        {
          "allele": "G",
          "end": 201,
          "referenceAllele": "A",
          "start": 200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322967.2:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309896.1:p.Met1Val",
        "hgvsWellDefined": "NP_001309896.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685880"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181865",
      "coordinates": [
        {
          "allele": "G",
          "end": 288,
          "referenceAllele": "A",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322968.2:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309897.1:p.Met1Val",
        "hgvsWellDefined": "NP_001309897.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685881"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827182227",
      "coordinates": [
        {
          "allele": "G",
          "end": 168,
          "referenceAllele": "A",
          "start": 167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322969.2:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309898.1:p.Met1Val",
        "hgvsWellDefined": "NP_001309898.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685882"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827182591",
      "coordinates": [
        {
          "allele": "G",
          "end": 384,
          "referenceAllele": "A",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322970.2:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309899.1:p.Met1Val",
        "hgvsWellDefined": "NP_001309899.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685883"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499248958",
      "coordinates": [
        {
          "allele": "G",
          "end": 81,
          "referenceAllele": "A",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322971.2:c.1A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309900.1:p.Met1Val",
        "hgvsWellDefined": "NP_001309900.1:p.Met1Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685884"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 51,
          "endIntronDirection": "-",
          "endIntronOffset": 3205,
          "referenceAllele": "A",
          "start": 51,
          "startIntronDirection": "-",
          "startIntronOffset": 3206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322974.2:c.-515-3206A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309903.1:n.-515-3206A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685885"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 51,
          "endIntronDirection": "-",
          "endIntronOffset": 3205,
          "referenceAllele": "A",
          "start": 51,
          "startIntronDirection": "-",
          "startIntronOffset": 3206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001171814.2:c.-215-3206A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165285.1:n.-215-3206A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713386"
    }
  ],
  "type": "nucleotide"
}