{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1638223111",
  "communityStandardTitle": [
    "NM_012434.5(SLC17A5):c.384T= (p.Tyr128=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516257",
        "rs": 1057516257
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 73641832,
          "referenceAllele": "A",
          "start": 73641831
        }
      ],
      "hgvs": [
        "NC_000006.12:g.73641832A=",
        "CM000668.2:g.73641832A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 74351555,
          "referenceAllele": "A",
          "start": 74351554
        }
      ],
      "hgvs": [
        "NC_000006.11:g.74351555A=",
        "CM000668.1:g.74351555A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 74408276,
          "referenceAllele": "A",
          "start": 74408275
        }
      ],
      "hgvs": [
        "NC_000006.10:g.74408276A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17183,
          "referenceAllele": "T",
          "start": 17182
        }
      ],
      "hgvs": [
        "NG_008272.1:g.17183T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000987"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "T",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "ENST00000355773.6:c.384T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348019.5:p.Tyr128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748718",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355773.6:c.384T="
          },
          "RefSeq": {
            "hgvs": "NM_012434.5:c.384T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348019.5:p.Tyr128="
          },
          "RefSeq": {
            "hgvs": "NP_036566.1:p.Tyr128="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 653,
          "referenceAllele": "T",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "ENST00000355773.5:c.384T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348019.5:p.Tyr128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263546"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 150,
          "referenceAllele": "T",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "ENST00000481996.1:n.150T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321797"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072655898",
      "coordinates": [
        {
          "allele": "T",
          "end": 512,
          "referenceAllele": "T",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_012434.4:c.384T="
      ],
      "proteinEffect": {
        "hgvs": "NP_036566.1:p.Tyr128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032590"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 522,
          "referenceAllele": "T",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "XM_005248710.2:c.333T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005248767.1:p.Tyr111="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 766,
          "referenceAllele": "T",
          "start": 765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "XM_005248711.1:c.186T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005248768.1:p.Tyr62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 470,
          "referenceAllele": "T",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "XM_011535750.1:c.384T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534052.1:p.Tyr128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102753"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 470,
          "referenceAllele": "T",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "XM_011535751.1:c.384T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534053.1:p.Tyr128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102754"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072655898",
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "T",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_012434.5:c.384T="
      ],
      "proteinEffect": {
        "hgvs": "NP_036566.1:p.Tyr128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668048",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355773.6:c.384T="
          },
          "RefSeq": {
            "hgvs": "NM_012434.5:c.384T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348019.5:p.Tyr128="
          },
          "RefSeq": {
            "hgvs": "NP_036566.1:p.Tyr128="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 293,
          "referenceAllele": "T",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382629.1:c.153T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369558.1:p.Tyr51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722473"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "T",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382630.1:c.384T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369559.1:p.Tyr128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722474"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 511,
          "referenceAllele": "T",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382631.1:c.405T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369560.1:p.Tyr135="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722475"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "T",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382632.1:c.384T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369561.1:p.Tyr128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "T",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382633.1:c.384T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369562.1:p.Tyr128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722477"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "T",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382634.1:c.384T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369563.1:p.Tyr128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722478"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "T",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382635.1:c.384T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369564.1:p.Tyr128="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 293,
          "referenceAllele": "T",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382636.1:c.153T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369565.1:p.Tyr51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722480"
    }
  ],
  "type": "nucleotide"
}