{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA364718138",
  "communityStandardTitle": [
    "NM_012434.5(SLC17A5):c.407A>G (p.Lys136Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2122773[alleleid]",
        "alleleId": 2122773,
        "preferredName": "NM_012434.5(SLC17A5):c.407A>G (p.Lys136Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2068802",
        "RCV": [
          "RCV002975110"
        ],
        "variationId": 2068802
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.74351532T>C?assembly=hg19",
        "id": "chr6:g.74351532T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.73641809T>C?assembly=hg38",
        "id": "chr6:g.73641809T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1279505129",
        "rs": 1279505129
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-74351532-T-C?dataset=gnomad_r2_1",
        "id": "6-74351532-T-C",
        "variant": "6:74351532 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-73641809-T-C?dataset=gnomad_r4",
        "id": "6-73641809-T-C",
        "variant": "6:73641809 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 73641809,
          "referenceAllele": "T",
          "start": 73641808
        }
      ],
      "hgvs": [
        "NC_000006.12:g.73641809T>C",
        "CM000668.2:g.73641809T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 74351532,
          "referenceAllele": "T",
          "start": 74351531
        }
      ],
      "hgvs": [
        "NC_000006.11:g.74351532T>C",
        "CM000668.1:g.74351532T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 74408253,
          "referenceAllele": "T",
          "start": 74408252
        }
      ],
      "hgvs": [
        "NC_000006.10:g.74408253T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 17206,
          "referenceAllele": "A",
          "start": 17205
        }
      ],
      "hgvs": [
        "NG_008272.1:g.17206A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000987"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 513,
          "referenceAllele": "A",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "ENST00000355773.6:c.407A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348019.5:p.Lys136Arg",
        "hgvsWellDefined": "ENSP00000348019.5:p.Lys136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748718",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355773.6:c.407A>G"
          },
          "RefSeq": {
            "hgvs": "NM_012434.5:c.407A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348019.5:p.Lys136Arg"
          },
          "RefSeq": {
            "hgvs": "NP_036566.1:p.Lys136Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 676,
          "referenceAllele": "A",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "ENST00000355773.5:c.407A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348019.5:p.Lys136Arg",
        "hgvsWellDefined": "ENSP00000348019.5:p.Lys136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263546"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 173,
          "referenceAllele": "A",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "ENST00000481996.1:n.173A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321797"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829733741",
      "coordinates": [
        {
          "allele": "G",
          "end": 535,
          "referenceAllele": "A",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_012434.4:c.407A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036566.1:p.Lys136Arg",
        "hgvsWellDefined": "NP_036566.1:p.Lys136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032590"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 545,
          "referenceAllele": "A",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "XM_005248710.2:c.356A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248767.1:p.Lys119Arg",
        "hgvsWellDefined": "XP_005248767.1:p.Lys119Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 789,
          "referenceAllele": "A",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "XM_005248711.1:c.209A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248768.1:p.Lys70Arg",
        "hgvsWellDefined": "XP_005248768.1:p.Lys70Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058555"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 493,
          "referenceAllele": "A",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "XM_011535750.1:c.407A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534052.1:p.Lys136Arg",
        "hgvsWellDefined": "XP_011534052.1:p.Lys136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102753"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 493,
          "referenceAllele": "A",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "XM_011535751.1:c.407A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534053.1:p.Lys136Arg",
        "hgvsWellDefined": "XP_011534053.1:p.Lys136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102754"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829733741",
      "coordinates": [
        {
          "allele": "G",
          "end": 513,
          "referenceAllele": "A",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_012434.5:c.407A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036566.1:p.Lys136Arg",
        "hgvsWellDefined": "NP_036566.1:p.Lys136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668048",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355773.6:c.407A>G"
          },
          "RefSeq": {
            "hgvs": "NM_012434.5:c.407A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348019.5:p.Lys136Arg"
          },
          "RefSeq": {
            "hgvs": "NP_036566.1:p.Lys136Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828909334",
      "coordinates": [
        {
          "allele": "G",
          "end": 316,
          "referenceAllele": "A",
          "start": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382629.1:c.176A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369558.1:p.Lys59Arg",
        "hgvsWellDefined": "NP_001369558.1:p.Lys59Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722473"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828909592",
      "coordinates": [
        {
          "allele": "G",
          "end": 513,
          "referenceAllele": "A",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382630.1:c.407A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369559.1:p.Lys136Arg",
        "hgvsWellDefined": "NP_001369559.1:p.Lys136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722474"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828909820",
      "coordinates": [
        {
          "allele": "G",
          "end": 534,
          "referenceAllele": "A",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382631.1:c.428A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369560.1:p.Lys143Arg",
        "hgvsWellDefined": "NP_001369560.1:p.Lys143Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722475"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828910013",
      "coordinates": [
        {
          "allele": "G",
          "end": 513,
          "referenceAllele": "A",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382632.1:c.407A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369561.1:p.Lys136Arg",
        "hgvsWellDefined": "NP_001369561.1:p.Lys136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722476"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828910260",
      "coordinates": [
        {
          "allele": "G",
          "end": 513,
          "referenceAllele": "A",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382633.1:c.407A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369562.1:p.Lys136Arg",
        "hgvsWellDefined": "NP_001369562.1:p.Lys136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722477"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828910508",
      "coordinates": [
        {
          "allele": "G",
          "end": 513,
          "referenceAllele": "A",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382634.1:c.407A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369563.1:p.Lys136Arg",
        "hgvsWellDefined": "NP_001369563.1:p.Lys136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722478"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828910739",
      "coordinates": [
        {
          "allele": "G",
          "end": 513,
          "referenceAllele": "A",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382635.1:c.407A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369564.1:p.Lys136Arg",
        "hgvsWellDefined": "NP_001369564.1:p.Lys136Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722479"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580238551",
      "coordinates": [
        {
          "allele": "G",
          "end": 316,
          "referenceAllele": "A",
          "start": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010933",
      "geneNCBI_id": 26503,
      "geneSymbol": "SLC17A5",
      "hgvs": [
        "NM_001382636.1:c.176A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369565.1:p.Lys59Arg",
        "hgvsWellDefined": "NP_001369565.1:p.Lys59Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722480"
    }
  ],
  "type": "nucleotide"
}