{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA113964",
  "communityStandardTitle": [
    "NM_000274.4(OAT):c.955C>T (p.His319Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15203[alleleid]",
        "alleleId": 15203,
        "preferredName": "NM_000274.4(OAT):c.955C>T (p.His319Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/164",
        "RCV": [
          "RCV000000187"
        ],
        "variationId": 164
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.126090354G>A?assembly=hg19",
        "id": "chr10:g.126090354G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.124401785G>A?assembly=hg38",
        "id": "chr10:g.124401785G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121965049",
        "rs": 121965049
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 124401785,
          "referenceAllele": "G",
          "start": 124401784
        }
      ],
      "hgvs": [
        "NC_000010.11:g.124401785G>A",
        "CM000672.2:g.124401785G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 126090354,
          "referenceAllele": "G",
          "start": 126090353
        }
      ],
      "hgvs": [
        "NC_000010.10:g.126090354G>A",
        "CM000672.1:g.126090354G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 126080344,
          "referenceAllele": "G",
          "start": 126080343
        }
      ],
      "hgvs": [
        "NC_000010.9:g.126080344G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22166,
          "referenceAllele": "C",
          "start": 22165
        }
      ],
      "hgvs": [
        "NG_008861.1:g.22166C>T",
        "LRG_685:g.22166C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001256"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1035,
          "referenceAllele": "C",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000368845.6:c.955C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357838.5:p.His319Tyr",
        "hgvsWellDefined": "ENSP00000357838.5:p.His319Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750301",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368845.6:c.955C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000274.4:c.955C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357838.5:p.His319Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000265.1:p.His319Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1048,
          "referenceAllele": "C",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000368845.5:c.955C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357838.5:p.His319Tyr",
        "hgvsWellDefined": "ENSP00000357838.5:p.His319Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "C",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000467675.5:n.756C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 465,
          "referenceAllele": "C",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000471127.1:n.465C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 860,
          "referenceAllele": "C",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000539214.5:c.541C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439042.1:p.His181Tyr",
        "hgvsWellDefined": "ENSP00000439042.1:p.His181Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361734"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103940",
      "coordinates": [
        {
          "allele": "T",
          "end": 1088,
          "referenceAllele": "C",
          "start": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_000274.3:c.955C>T",
        "LRG_685t1:c.955C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000265.1:p.His319Tyr",
        "hgvsWellDefined": "NP_000265.1:p.His319Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006336"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113966",
      "coordinates": [
        {
          "allele": "T",
          "end": 860,
          "referenceAllele": "C",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001171814.1:c.541C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165285.1:p.His181Tyr",
        "hgvsWellDefined": "NP_001165285.1:p.His181Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "XM_006717871.2:c.955C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717934.1:p.His319Tyr",
        "hgvsWellDefined": "XP_006717934.1:p.His319Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1191,
          "referenceAllele": "C",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "XM_011539833.1:c.955C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538135.1:p.His319Tyr",
        "hgvsWellDefined": "XP_011538135.1:p.His319Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106783"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1104,
          "referenceAllele": "C",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "XM_011539834.1:c.955C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538136.1:p.His319Tyr",
        "hgvsWellDefined": "XP_011538136.1:p.His319Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106784"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181023",
      "coordinates": [
        {
          "allele": "T",
          "end": 1083,
          "referenceAllele": "C",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322965.1:c.955C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309894.1:p.His319Tyr",
        "hgvsWellDefined": "NP_001309894.1:p.His319Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515201"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181386",
      "coordinates": [
        {
          "allele": "T",
          "end": 1403,
          "referenceAllele": "C",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322966.1:c.955C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309895.1:p.His319Tyr",
        "hgvsWellDefined": "NP_001309895.1:p.His319Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515202"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181749",
      "coordinates": [
        {
          "allele": "T",
          "end": 1208,
          "referenceAllele": "C",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322967.1:c.955C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309896.1:p.His319Tyr",
        "hgvsWellDefined": "NP_001309896.1:p.His319Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827182113",
      "coordinates": [
        {
          "allele": "T",
          "end": 1295,
          "referenceAllele": "C",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322968.1:c.955C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309897.1:p.His319Tyr",
        "hgvsWellDefined": "NP_001309897.1:p.His319Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827182477",
      "coordinates": [
        {
          "allele": "T",
          "end": 1175,
          "referenceAllele": "C",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322969.1:c.955C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309898.1:p.His319Tyr",
        "hgvsWellDefined": "NP_001309898.1:p.His319Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515205"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916026739",
      "coordinates": [
        {
          "allele": "T",
          "end": 1391,
          "referenceAllele": "C",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322970.1:c.955C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309899.1:p.His319Tyr",
        "hgvsWellDefined": "NP_001309899.1:p.His319Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827182986",
      "coordinates": [
        {
          "allele": "T",
          "end": 767,
          "referenceAllele": "C",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322971.1:c.634C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309900.1:p.His212Tyr",
        "hgvsWellDefined": "NP_001309900.1:p.His212Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515207"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827183167",
      "coordinates": [
        {
          "allele": "T",
          "end": 974,
          "referenceAllele": "C",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322974.1:c.355C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309903.1:p.His119Tyr",
        "hgvsWellDefined": "NP_001309903.1:p.His119Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2883,
          "referenceAllele": "C",
          "start": 2882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "XM_017016279.1:c.355C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871768.1:p.His119Tyr",
        "hgvsWellDefined": "XP_016871768.1:p.His119Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568769"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103940",
      "coordinates": [
        {
          "allele": "T",
          "end": 1035,
          "referenceAllele": "C",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_000274.4:c.955C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000265.1:p.His319Tyr",
        "hgvsWellDefined": "NP_000265.1:p.His319Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674772",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368845.6:c.955C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000274.4:c.955C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357838.5:p.His319Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000265.1:p.His319Tyr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181023",
      "coordinates": [
        {
          "allele": "T",
          "end": 1030,
          "referenceAllele": "C",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322965.2:c.955C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309894.1:p.His319Tyr",
        "hgvsWellDefined": "NP_001309894.1:p.His319Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685878"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181386",
      "coordinates": [
        {
          "allele": "T",
          "end": 1350,
          "referenceAllele": "C",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322966.2:c.955C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309895.1:p.His319Tyr",
        "hgvsWellDefined": "NP_001309895.1:p.His319Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827181749",
      "coordinates": [
        {
          "allele": "T",
          "end": 1155,
          "referenceAllele": "C",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322967.2:c.955C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309896.1:p.His319Tyr",
        "hgvsWellDefined": "NP_001309896.1:p.His319Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685880"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827182113",
      "coordinates": [
        {
          "allele": "T",
          "end": 1242,
          "referenceAllele": "C",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322968.2:c.955C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309897.1:p.His319Tyr",
        "hgvsWellDefined": "NP_001309897.1:p.His319Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685881"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827182477",
      "coordinates": [
        {
          "allele": "T",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322969.2:c.955C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309898.1:p.His319Tyr",
        "hgvsWellDefined": "NP_001309898.1:p.His319Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685882"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916026739",
      "coordinates": [
        {
          "allele": "T",
          "end": 1338,
          "referenceAllele": "C",
          "start": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322970.2:c.955C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309899.1:p.His319Tyr",
        "hgvsWellDefined": "NP_001309899.1:p.His319Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685883"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827182986",
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322971.2:c.634C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309900.1:p.His212Tyr",
        "hgvsWellDefined": "NP_001309900.1:p.His212Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685884"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827183167",
      "coordinates": [
        {
          "allele": "T",
          "end": 921,
          "referenceAllele": "C",
          "start": 920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322974.2:c.355C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309903.1:p.His119Tyr",
        "hgvsWellDefined": "NP_001309903.1:p.His119Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685885"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113966",
      "coordinates": [
        {
          "allele": "T",
          "end": 807,
          "referenceAllele": "C",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001171814.2:c.541C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165285.1:p.His181Tyr",
        "hgvsWellDefined": "NP_001165285.1:p.His181Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713386"
    }
  ],
  "type": "nucleotide"
}