{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA378635040",
  "communityStandardTitle": [
    "NM_000274.4(OAT):c.899C>T (p.Pro300Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=590288[alleleid]",
        "alleleId": 590288,
        "preferredName": "NM_000274.4(OAT):c.899C>T (p.Pro300Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/599083",
        "RCV": [
          "RCV000735677"
        ],
        "variationId": 599083
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.126091497G>A?assembly=hg19",
        "id": "chr10:g.126091497G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.124402928G>A?assembly=hg38",
        "id": "chr10:g.124402928G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/759979499",
        "rs": 759979499
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 124402928,
          "referenceAllele": "G",
          "start": 124402927
        }
      ],
      "hgvs": [
        "NC_000010.11:g.124402928G>A",
        "CM000672.2:g.124402928G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 126091497,
          "referenceAllele": "G",
          "start": 126091496
        }
      ],
      "hgvs": [
        "NC_000010.10:g.126091497G>A",
        "CM000672.1:g.126091497G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 126081487,
          "referenceAllele": "G",
          "start": 126081486
        }
      ],
      "hgvs": [
        "NC_000010.9:g.126081487G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21023,
          "referenceAllele": "C",
          "start": 21022
        }
      ],
      "hgvs": [
        "NG_008861.1:g.21023C>T",
        "LRG_685:g.21023C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001256"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 979,
          "referenceAllele": "C",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000368845.6:c.899C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357838.5:p.Pro300Leu",
        "hgvsWellDefined": "ENSP00000357838.5:p.Pro300Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750301",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368845.6:c.899C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000274.4:c.899C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357838.5:p.Pro300Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000265.1:p.Pro300Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 992,
          "referenceAllele": "C",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000368845.5:c.899C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357838.5:p.Pro300Leu",
        "hgvsWellDefined": "ENSP00000357838.5:p.Pro300Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 700,
          "referenceAllele": "C",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000467675.5:n.700C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 409,
          "referenceAllele": "C",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000471127.1:n.409C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 804,
          "referenceAllele": "C",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000539214.5:c.485C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439042.1:p.Pro162Leu",
        "hgvsWellDefined": "ENSP00000439042.1:p.Pro162Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913194938",
      "coordinates": [
        {
          "allele": "T",
          "end": 1032,
          "referenceAllele": "C",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_000274.3:c.899C>T",
        "LRG_685t1:c.899C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000265.1:p.Pro300Leu",
        "hgvsWellDefined": "NP_000265.1:p.Pro300Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006336"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826089717",
      "coordinates": [
        {
          "allele": "T",
          "end": 804,
          "referenceAllele": "C",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001171814.1:c.485C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165285.1:p.Pro162Leu",
        "hgvsWellDefined": "NP_001165285.1:p.Pro162Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1066,
          "referenceAllele": "C",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "XM_006717871.2:c.899C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717934.1:p.Pro300Leu",
        "hgvsWellDefined": "XP_006717934.1:p.Pro300Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1135,
          "referenceAllele": "C",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "XM_011539833.1:c.899C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538135.1:p.Pro300Leu",
        "hgvsWellDefined": "XP_011538135.1:p.Pro300Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106783"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1048,
          "referenceAllele": "C",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "XM_011539834.1:c.899C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538136.1:p.Pro300Leu",
        "hgvsWellDefined": "XP_011538136.1:p.Pro300Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106784"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181011",
      "coordinates": [
        {
          "allele": "T",
          "end": 1027,
          "referenceAllele": "C",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322965.1:c.899C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309894.1:p.Pro300Leu",
        "hgvsWellDefined": "NP_001309894.1:p.Pro300Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515201"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181374",
      "coordinates": [
        {
          "allele": "T",
          "end": 1347,
          "referenceAllele": "C",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322966.1:c.899C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309895.1:p.Pro300Leu",
        "hgvsWellDefined": "NP_001309895.1:p.Pro300Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515202"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181737",
      "coordinates": [
        {
          "allele": "T",
          "end": 1152,
          "referenceAllele": "C",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322967.1:c.899C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309896.1:p.Pro300Leu",
        "hgvsWellDefined": "NP_001309896.1:p.Pro300Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827182100",
      "coordinates": [
        {
          "allele": "T",
          "end": 1239,
          "referenceAllele": "C",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322968.1:c.899C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309897.1:p.Pro300Leu",
        "hgvsWellDefined": "NP_001309897.1:p.Pro300Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827182463",
      "coordinates": [
        {
          "allele": "T",
          "end": 1119,
          "referenceAllele": "C",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322969.1:c.899C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309898.1:p.Pro300Leu",
        "hgvsWellDefined": "NP_001309898.1:p.Pro300Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515205"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916026736",
      "coordinates": [
        {
          "allele": "T",
          "end": 1335,
          "referenceAllele": "C",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322970.1:c.899C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309899.1:p.Pro300Leu",
        "hgvsWellDefined": "NP_001309899.1:p.Pro300Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827182972",
      "coordinates": [
        {
          "allele": "T",
          "end": 711,
          "referenceAllele": "C",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322971.1:c.578C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309900.1:p.Pro193Leu",
        "hgvsWellDefined": "NP_001309900.1:p.Pro193Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515207"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827183154",
      "coordinates": [
        {
          "allele": "T",
          "end": 918,
          "referenceAllele": "C",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322974.1:c.299C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309903.1:p.Pro100Leu",
        "hgvsWellDefined": "NP_001309903.1:p.Pro100Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2827,
          "referenceAllele": "C",
          "start": 2826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "XM_017016279.1:c.299C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871768.1:p.Pro100Leu",
        "hgvsWellDefined": "XP_016871768.1:p.Pro100Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568769"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913194938",
      "coordinates": [
        {
          "allele": "T",
          "end": 979,
          "referenceAllele": "C",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_000274.4:c.899C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000265.1:p.Pro300Leu",
        "hgvsWellDefined": "NP_000265.1:p.Pro300Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674772",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368845.6:c.899C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000274.4:c.899C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357838.5:p.Pro300Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000265.1:p.Pro300Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181011",
      "coordinates": [
        {
          "allele": "T",
          "end": 974,
          "referenceAllele": "C",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322965.2:c.899C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309894.1:p.Pro300Leu",
        "hgvsWellDefined": "NP_001309894.1:p.Pro300Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685878"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181374",
      "coordinates": [
        {
          "allele": "T",
          "end": 1294,
          "referenceAllele": "C",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322966.2:c.899C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309895.1:p.Pro300Leu",
        "hgvsWellDefined": "NP_001309895.1:p.Pro300Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181737",
      "coordinates": [
        {
          "allele": "T",
          "end": 1099,
          "referenceAllele": "C",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322967.2:c.899C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309896.1:p.Pro300Leu",
        "hgvsWellDefined": "NP_001309896.1:p.Pro300Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685880"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827182100",
      "coordinates": [
        {
          "allele": "T",
          "end": 1186,
          "referenceAllele": "C",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322968.2:c.899C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309897.1:p.Pro300Leu",
        "hgvsWellDefined": "NP_001309897.1:p.Pro300Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685881"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827182463",
      "coordinates": [
        {
          "allele": "T",
          "end": 1066,
          "referenceAllele": "C",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322969.2:c.899C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309898.1:p.Pro300Leu",
        "hgvsWellDefined": "NP_001309898.1:p.Pro300Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685882"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916026736",
      "coordinates": [
        {
          "allele": "T",
          "end": 1282,
          "referenceAllele": "C",
          "start": 1281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322970.2:c.899C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309899.1:p.Pro300Leu",
        "hgvsWellDefined": "NP_001309899.1:p.Pro300Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685883"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827182972",
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "C",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322971.2:c.578C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309900.1:p.Pro193Leu",
        "hgvsWellDefined": "NP_001309900.1:p.Pro193Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685884"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827183154",
      "coordinates": [
        {
          "allele": "T",
          "end": 865,
          "referenceAllele": "C",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322974.2:c.299C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309903.1:p.Pro100Leu",
        "hgvsWellDefined": "NP_001309903.1:p.Pro100Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685885"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826089717",
      "coordinates": [
        {
          "allele": "T",
          "end": 751,
          "referenceAllele": "C",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001171814.2:c.485C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165285.1:p.Pro162Leu",
        "hgvsWellDefined": "NP_001165285.1:p.Pro162Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713386"
    }
  ],
  "type": "nucleotide"
}