{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA378636072",
  "communityStandardTitle": [
    "NM_000274.4(OAT):c.648+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=940164[alleleid]",
        "alleleId": 940164,
        "preferredName": "NM_000274.4(OAT):c.648+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/942676",
        "RCV": [
          "RCV001212701"
        ],
        "variationId": 942676
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.126094004C>T?assembly=hg19",
        "id": "chr10:g.126094004C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.124405435C>T?assembly=hg38",
        "id": "chr10:g.124405435C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1951546023",
        "rs": 1951546023
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 124405435,
          "referenceAllele": "C",
          "start": 124405434
        }
      ],
      "hgvs": [
        "NC_000010.11:g.124405435C>T",
        "CM000672.2:g.124405435C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 126094004,
          "referenceAllele": "C",
          "start": 126094003
        }
      ],
      "hgvs": [
        "NC_000010.10:g.126094004C>T",
        "CM000672.1:g.126094004C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 126083994,
          "referenceAllele": "C",
          "start": 126083993
        }
      ],
      "hgvs": [
        "NC_000010.9:g.126083994C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 18516,
          "referenceAllele": "G",
          "start": 18515
        }
      ],
      "hgvs": [
        "NG_008861.1:g.18516G>A",
        "LRG_685:g.18516G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001256"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 728,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 728,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000368845.6:c.648+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357838.5:n.648+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750301",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368845.6:c.648+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000274.4:c.648+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357838.5:n.648+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000265.1:n.648+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 741,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 741,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000368845.5:c.648+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357838.5:n.648+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 449,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 449,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000467675.5:n.449+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310769"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 494,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000483711.1:n.494+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323120"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 553,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 553,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "ENST00000539214.5:c.234+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439042.1:n.234+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361734"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 781,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 781,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_000274.3:c.648+1G>A",
        "LRG_685t1:c.648+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000265.1:n.648+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006336"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 553,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 553,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001171814.1:c.234+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165285.1:n.234+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 815,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 815,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "XM_006717871.2:c.648+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717934.1:n.648+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 884,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 884,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "XM_011539833.1:c.648+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538135.1:n.648+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 797,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 797,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "XM_011539834.1:c.648+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538136.1:n.648+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 776,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 776,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322965.1:c.648+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309894.1:n.648+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515201"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1096,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1096,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322966.1:c.648+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309895.1:n.648+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515202"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 901,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 901,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322967.1:c.648+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309896.1:n.648+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515203"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 988,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 988,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322968.1:c.648+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309897.1:n.648+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 868,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 868,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322969.1:c.648+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309898.1:n.648+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1084,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1084,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322970.1:c.648+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309899.1:n.648+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 460,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 460,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322971.1:c.327+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309900.1:n.327+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 667,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 667,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322974.1:c.48+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309903.1:n.48+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2576,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2576,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "XM_017016279.1:c.48+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871768.1:n.48+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568769"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 728,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 728,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_000274.4:c.648+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000265.1:n.648+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674772",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368845.6:c.648+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000274.4:c.648+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357838.5:n.648+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000265.1:n.648+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 723,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 723,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322965.2:c.648+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309894.1:n.648+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1043,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1043,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322966.2:c.648+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309895.1:n.648+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685879"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 848,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 848,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322967.2:c.648+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309896.1:n.648+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685880"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 935,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 935,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322968.2:c.648+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309897.1:n.648+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 815,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 815,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322969.2:c.648+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309898.1:n.648+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685882"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1031,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1031,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322970.2:c.648+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309899.1:n.648+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685883"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 407,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 407,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322971.2:c.327+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309900.1:n.327+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685884"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 614,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 614,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001322974.2:c.48+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309903.1:n.48+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 500,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 500,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008091",
      "geneNCBI_id": 4942,
      "geneSymbol": "OAT",
      "hgvs": [
        "NM_001171814.2:c.234+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165285.1:n.234+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713386"
    }
  ],
  "type": "nucleotide"
}