{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1638223079",
  "communityStandardTitle": [
    "NM_012434.5(SLC17A5):c.406A= (p.Lys136=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80338795",
        "rs": 80338795
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 73641810,
          "referenceAllele": "T",
          "start": 73641809
        }
      ],
      "hgvs": [
        "NC_000006.12:g.73641810T=",
        "CM000668.2:g.73641810T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 74351533,
          "referenceAllele": "T",
          "start": 74351532
        }
      ],
      "hgvs": [
        "NC_000006.11:g.74351533T=",
        "CM000668.1:g.74351533T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 74408254,
          "referenceAllele": "T",
          "start": 74408253
        }
      ],
      "hgvs": [
        "NC_000006.10:g.74408254T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17205,
          "referenceAllele": "A",
          "start": 17204
        }
      ],
      "hgvs": [
        "NG_008272.1:g.17205A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000987"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 512,
          "referenceAllele": "A",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "ENST00000355773.6:c.406A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348019.5:p.Lys136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748718",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355773.6:c.406A="
          },
          "RefSeq": {
            "hgvs": "NM_012434.5:c.406A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348019.5:p.Lys136="
          },
          "RefSeq": {
            "hgvs": "NP_036566.1:p.Lys136="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 675,
          "referenceAllele": "A",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "ENST00000355773.5:c.406A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348019.5:p.Lys136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263546"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 172,
          "referenceAllele": "A",
          "start": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "ENST00000481996.1:n.172A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321797"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829733742",
      "coordinates": [
        {
          "allele": "A",
          "end": 534,
          "referenceAllele": "A",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_012434.4:c.406A="
      ],
      "proteinEffect": {
        "hgvs": "NP_036566.1:p.Lys136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032590"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 544,
          "referenceAllele": "A",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "XM_005248710.2:c.355A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005248767.1:p.Lys119="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 788,
          "referenceAllele": "A",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "XM_005248711.1:c.208A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005248768.1:p.Lys70="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 492,
          "referenceAllele": "A",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "XM_011535750.1:c.406A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534052.1:p.Lys136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102753"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 492,
          "referenceAllele": "A",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "XM_011535751.1:c.406A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534053.1:p.Lys136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102754"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829733742",
      "coordinates": [
        {
          "allele": "A",
          "end": 512,
          "referenceAllele": "A",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_012434.5:c.406A="
      ],
      "proteinEffect": {
        "hgvs": "NP_036566.1:p.Lys136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668048",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355773.6:c.406A="
          },
          "RefSeq": {
            "hgvs": "NM_012434.5:c.406A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348019.5:p.Lys136="
          },
          "RefSeq": {
            "hgvs": "NP_036566.1:p.Lys136="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828909333",
      "coordinates": [
        {
          "allele": "A",
          "end": 315,
          "referenceAllele": "A",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382629.1:c.175A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369558.1:p.Lys59="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722473"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828909593",
      "coordinates": [
        {
          "allele": "A",
          "end": 512,
          "referenceAllele": "A",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382630.1:c.406A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369559.1:p.Lys136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722474"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828909821",
      "coordinates": [
        {
          "allele": "A",
          "end": 533,
          "referenceAllele": "A",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382631.1:c.427A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369560.1:p.Lys143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722475"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828910014",
      "coordinates": [
        {
          "allele": "A",
          "end": 512,
          "referenceAllele": "A",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382632.1:c.406A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369561.1:p.Lys136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722476"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828910261",
      "coordinates": [
        {
          "allele": "A",
          "end": 512,
          "referenceAllele": "A",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382633.1:c.406A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369562.1:p.Lys136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722477"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828910507",
      "coordinates": [
        {
          "allele": "A",
          "end": 512,
          "referenceAllele": "A",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382634.1:c.406A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369563.1:p.Lys136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722478"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828910740",
      "coordinates": [
        {
          "allele": "A",
          "end": 512,
          "referenceAllele": "A",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382635.1:c.406A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369564.1:p.Lys136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722479"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828910941",
      "coordinates": [
        {
          "allele": "A",
          "end": 315,
          "referenceAllele": "A",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382636.1:c.175A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369565.1:p.Lys59="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722480"
    }
  ],
  "type": "nucleotide"
}