{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA144137",
  "communityStandardTitle": [
    "NM_000274.4(OAT):c.1181G>A (p.Cys394Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=70753[alleleid]",
        "alleleId": 70753,
        "preferredName": "NM_000274.4(OAT):c.1181G>A (p.Cys394Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56114",
        "RCV": [
          "RCV000049523"
        ],
        "variationId": 56114
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.126086650C>T?assembly=hg19",
        "id": "chr10:g.126086650C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.124398081C>T?assembly=hg38",
        "id": "chr10:g.124398081C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/386833597",
        "rs": 386833597
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-124398081-C-T?dataset=gnomad_r4",
        "id": "10-124398081-C-T",
        "variant": "10:124398081 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 124398081,
          "referenceAllele": "C",
          "start": 124398080
        }
      ],
      "hgvs": [
        "NC_000010.11:g.124398081C>T",
        "CM000672.2:g.124398081C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 126086650,
          "referenceAllele": "C",
          "start": 126086649
        }
      ],
      "hgvs": [
        "NC_000010.10:g.126086650C>T",
        "CM000672.1:g.126086650C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 126076640,
          "referenceAllele": "C",
          "start": 126076639
        }
      ],
      "hgvs": [
        "NC_000010.9:g.126076640C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25870,
          "referenceAllele": "G",
          "start": 25869
        }
      ],
      "hgvs": [
        "NG_008861.1:g.25870G>A",
        "LRG_685:g.25870G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001256"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1261,
          "referenceAllele": "G",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000368845.6:c.1181G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357838.5:p.Cys394Tyr",
        "hgvsWellDefined": "ENSP00000357838.5:p.Cys394Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750301",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368845.6:c.1181G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000274.4:c.1181G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357838.5:p.Cys394Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000265.1:p.Cys394Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1274,
          "referenceAllele": "G",
          "start": 1273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000368845.5:c.1181G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357838.5:p.Cys394Tyr",
        "hgvsWellDefined": "ENSP00000357838.5:p.Cys394Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 691,
          "referenceAllele": "G",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000471127.1:n.691G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313397"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1086,
          "referenceAllele": "G",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000539214.5:c.767G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439042.1:p.Cys256Tyr",
        "hgvsWellDefined": "ENSP00000439042.1:p.Cys256Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103850",
      "coordinates": [
        {
          "allele": "A",
          "end": 1314,
          "referenceAllele": "G",
          "start": 1313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_000274.3:c.1181G>A",
        "LRG_685t1:c.1181G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000265.1:p.Cys394Tyr",
        "hgvsWellDefined": "NP_000265.1:p.Cys394Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006336"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826089856",
      "coordinates": [
        {
          "allele": "A",
          "end": 1086,
          "referenceAllele": "G",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001171814.1:c.767G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165285.1:p.Cys256Tyr",
        "hgvsWellDefined": "NP_001165285.1:p.Cys256Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1348,
          "referenceAllele": "G",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "XM_006717871.2:c.1181G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717934.1:p.Cys394Tyr",
        "hgvsWellDefined": "XP_006717934.1:p.Cys394Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1417,
          "referenceAllele": "G",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "XM_011539833.1:c.1181G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538135.1:p.Cys394Tyr",
        "hgvsWellDefined": "XP_011538135.1:p.Cys394Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1330,
          "referenceAllele": "G",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "XM_011539834.1:c.1181G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538136.1:p.Cys394Tyr",
        "hgvsWellDefined": "XP_011538136.1:p.Cys394Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106784"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181088",
      "coordinates": [
        {
          "allele": "A",
          "end": 1309,
          "referenceAllele": "G",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322965.1:c.1181G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309894.1:p.Cys394Tyr",
        "hgvsWellDefined": "NP_001309894.1:p.Cys394Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515201"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181451",
      "coordinates": [
        {
          "allele": "A",
          "end": 1629,
          "referenceAllele": "G",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322966.1:c.1181G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309895.1:p.Cys394Tyr",
        "hgvsWellDefined": "NP_001309895.1:p.Cys394Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515202"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181815",
      "coordinates": [
        {
          "allele": "A",
          "end": 1434,
          "referenceAllele": "G",
          "start": 1433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322967.1:c.1181G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309896.1:p.Cys394Tyr",
        "hgvsWellDefined": "NP_001309896.1:p.Cys394Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827182178",
      "coordinates": [
        {
          "allele": "A",
          "end": 1521,
          "referenceAllele": "G",
          "start": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322968.1:c.1181G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309897.1:p.Cys394Tyr",
        "hgvsWellDefined": "NP_001309897.1:p.Cys394Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827182540",
      "coordinates": [
        {
          "allele": "A",
          "end": 1401,
          "referenceAllele": "G",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322969.1:c.1181G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309898.1:p.Cys394Tyr",
        "hgvsWellDefined": "NP_001309898.1:p.Cys394Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515205"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916026750",
      "coordinates": [
        {
          "allele": "A",
          "end": 1617,
          "referenceAllele": "G",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322970.1:c.1181G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309899.1:p.Cys394Tyr",
        "hgvsWellDefined": "NP_001309899.1:p.Cys394Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827183050",
      "coordinates": [
        {
          "allele": "A",
          "end": 993,
          "referenceAllele": "G",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322971.1:c.860G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309900.1:p.Cys287Tyr",
        "hgvsWellDefined": "NP_001309900.1:p.Cys287Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515207"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827183232",
      "coordinates": [
        {
          "allele": "A",
          "end": 1200,
          "referenceAllele": "G",
          "start": 1199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322974.1:c.581G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309903.1:p.Cys194Tyr",
        "hgvsWellDefined": "NP_001309903.1:p.Cys194Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3109,
          "referenceAllele": "G",
          "start": 3108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "XM_017016279.1:c.581G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871768.1:p.Cys194Tyr",
        "hgvsWellDefined": "XP_016871768.1:p.Cys194Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568769"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103850",
      "coordinates": [
        {
          "allele": "A",
          "end": 1261,
          "referenceAllele": "G",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_000274.4:c.1181G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000265.1:p.Cys394Tyr",
        "hgvsWellDefined": "NP_000265.1:p.Cys394Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674772",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368845.6:c.1181G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000274.4:c.1181G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357838.5:p.Cys394Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000265.1:p.Cys394Tyr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181088",
      "coordinates": [
        {
          "allele": "A",
          "end": 1256,
          "referenceAllele": "G",
          "start": 1255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322965.2:c.1181G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309894.1:p.Cys394Tyr",
        "hgvsWellDefined": "NP_001309894.1:p.Cys394Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685878"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181451",
      "coordinates": [
        {
          "allele": "A",
          "end": 1576,
          "referenceAllele": "G",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322966.2:c.1181G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309895.1:p.Cys394Tyr",
        "hgvsWellDefined": "NP_001309895.1:p.Cys394Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181815",
      "coordinates": [
        {
          "allele": "A",
          "end": 1381,
          "referenceAllele": "G",
          "start": 1380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322967.2:c.1181G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309896.1:p.Cys394Tyr",
        "hgvsWellDefined": "NP_001309896.1:p.Cys394Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685880"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827182178",
      "coordinates": [
        {
          "allele": "A",
          "end": 1468,
          "referenceAllele": "G",
          "start": 1467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322968.2:c.1181G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309897.1:p.Cys394Tyr",
        "hgvsWellDefined": "NP_001309897.1:p.Cys394Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685881"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827182540",
      "coordinates": [
        {
          "allele": "A",
          "end": 1348,
          "referenceAllele": "G",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322969.2:c.1181G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309898.1:p.Cys394Tyr",
        "hgvsWellDefined": "NP_001309898.1:p.Cys394Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685882"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916026750",
      "coordinates": [
        {
          "allele": "A",
          "end": 1564,
          "referenceAllele": "G",
          "start": 1563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322970.2:c.1181G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309899.1:p.Cys394Tyr",
        "hgvsWellDefined": "NP_001309899.1:p.Cys394Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685883"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827183050",
      "coordinates": [
        {
          "allele": "A",
          "end": 940,
          "referenceAllele": "G",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322971.2:c.860G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309900.1:p.Cys287Tyr",
        "hgvsWellDefined": "NP_001309900.1:p.Cys287Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685884"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827183232",
      "coordinates": [
        {
          "allele": "A",
          "end": 1147,
          "referenceAllele": "G",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322974.2:c.581G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309903.1:p.Cys194Tyr",
        "hgvsWellDefined": "NP_001309903.1:p.Cys194Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685885"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826089856",
      "coordinates": [
        {
          "allele": "A",
          "end": 1033,
          "referenceAllele": "G",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001171814.2:c.767G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165285.1:p.Cys256Tyr",
        "hgvsWellDefined": "NP_001165285.1:p.Cys256Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713386"
    }
  ],
  "type": "nucleotide"
}