{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA253539",
  "communityStandardTitle": [
    "NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20658[alleleid]",
        "alleleId": 20658,
        "preferredName": "NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5619",
        "RCV": [
          "RCV000005971",
          "RCV002496276",
          "RCV002512816"
        ],
        "variationId": 5619
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.74325148G>C?assembly=hg19",
        "id": "chr6:g.74325148G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.73615425G>C?assembly=hg38",
        "id": "chr6:g.73615425G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/119491110",
        "rs": 119491110
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 73615425,
          "referenceAllele": "G",
          "start": 73615424
        }
      ],
      "hgvs": [
        "NC_000006.12:g.73615425G>C",
        "CM000668.2:g.73615425G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 74325148,
          "referenceAllele": "G",
          "start": 74325147
        }
      ],
      "hgvs": [
        "NC_000006.11:g.74325148G>C",
        "CM000668.1:g.74325148G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 74381869,
          "referenceAllele": "G",
          "start": 74381868
        }
      ],
      "hgvs": [
        "NC_000006.10:g.74381869G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43590,
          "referenceAllele": "C",
          "start": 43589
        }
      ],
      "hgvs": [
        "NG_008272.1:g.43590C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000987"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1107,
          "referenceAllele": "C",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "ENST00000355773.6:c.1001C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348019.5:p.Pro334Arg",
        "hgvsWellDefined": "ENSP00000348019.5:p.Pro334Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748718",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355773.6:c.1001C>G"
          },
          "RefSeq": {
            "hgvs": "NM_012434.5:c.1001C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348019.5:p.Pro334Arg"
          },
          "RefSeq": {
            "hgvs": "NP_036566.1:p.Pro334Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1270,
          "referenceAllele": "C",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "ENST00000355773.5:c.1001C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348019.5:p.Pro334Arg",
        "hgvsWellDefined": "ENSP00000348019.5:p.Pro334Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263546"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092449",
      "coordinates": [
        {
          "allele": "G",
          "end": 1129,
          "referenceAllele": "C",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_012434.4:c.1001C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036566.1:p.Pro334Arg",
        "hgvsWellDefined": "NP_036566.1:p.Pro334Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032590"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1139,
          "referenceAllele": "C",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "XM_005248710.2:c.950C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248767.1:p.Pro317Arg",
        "hgvsWellDefined": "XP_005248767.1:p.Pro317Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1383,
          "referenceAllele": "C",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "XM_005248711.1:c.803C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248768.1:p.Pro268Arg",
        "hgvsWellDefined": "XP_005248768.1:p.Pro268Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058555"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1087,
          "referenceAllele": "C",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "XM_011535750.1:c.1001C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534052.1:p.Pro334Arg",
        "hgvsWellDefined": "XP_011534052.1:p.Pro334Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102753"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092449",
      "coordinates": [
        {
          "allele": "G",
          "end": 1107,
          "referenceAllele": "C",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_012434.5:c.1001C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036566.1:p.Pro334Arg",
        "hgvsWellDefined": "NP_036566.1:p.Pro334Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668048",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355773.6:c.1001C>G"
          },
          "RefSeq": {
            "hgvs": "NM_012434.5:c.1001C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348019.5:p.Pro334Arg"
          },
          "RefSeq": {
            "hgvs": "NP_036566.1:p.Pro334Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 910,
          "referenceAllele": "C",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382629.1:c.770C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369558.1:p.Pro257Arg",
        "hgvsWellDefined": "NP_001369558.1:p.Pro257Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722473"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1107,
          "referenceAllele": "C",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382630.1:c.1001C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369559.1:p.Pro334Arg",
        "hgvsWellDefined": "NP_001369559.1:p.Pro334Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722474"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1128,
          "referenceAllele": "C",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382631.1:c.1022C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369560.1:p.Pro341Arg",
        "hgvsWellDefined": "NP_001369560.1:p.Pro341Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722475"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1020,
          "referenceAllele": "C",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382632.1:c.914C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369561.1:p.Pro305Arg",
        "hgvsWellDefined": "NP_001369561.1:p.Pro305Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722476"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1107,
          "referenceAllele": "C",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382633.1:c.1001C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369562.1:p.Pro334Arg",
        "hgvsWellDefined": "NP_001369562.1:p.Pro334Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722477"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382634.1:c.842C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369563.1:p.Pro281Arg",
        "hgvsWellDefined": "NP_001369563.1:p.Pro281Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722478"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1104,
          "referenceAllele": "C",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382635.1:c.998C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369564.1:p.Pro333Arg",
        "hgvsWellDefined": "NP_001369564.1:p.Pro333Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722479"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "C",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382636.1:c.683C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369565.1:p.Pro228Arg",
        "hgvsWellDefined": "NP_001369565.1:p.Pro228Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722480"
    }
  ],
  "type": "nucleotide"
}