{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA360807440",
  "communityStandardTitle": [
    "NM_003060.4(SLC22A5):c.1073A>G (p.Tyr358Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1931266[alleleid]",
        "alleleId": 1931266,
        "preferredName": "NM_003060.4(SLC22A5):c.1073A>G (p.Tyr358Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2202143",
        "RCV": [
          "RCV002664012"
        ],
        "variationId": 2202143
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.131726402A>G?assembly=hg19",
        "id": "chr5:g.131726402A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.132390710A>G?assembly=hg38",
        "id": "chr5:g.132390710A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1266953756",
        "rs": 1266953756
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 132390710,
          "referenceAllele": "A",
          "start": 132390709
        }
      ],
      "hgvs": [
        "NC_000005.10:g.132390710A>G",
        "CM000667.2:g.132390710A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 131726402,
          "referenceAllele": "A",
          "start": 131726401
        }
      ],
      "hgvs": [
        "NC_000005.9:g.131726402A>G",
        "CM000667.1:g.131726402A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 131754301,
          "referenceAllele": "A",
          "start": 131754300
        }
      ],
      "hgvs": [
        "NC_000005.8:g.131754301A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 26002,
          "referenceAllele": "A",
          "start": 26001
        }
      ],
      "hgvs": [
        "NG_008982.1:g.26002A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001353"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 26007,
          "referenceAllele": "A",
          "start": 26006
        }
      ],
      "hgvs": [
        "NG_008982.2:g.26007A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616121"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1048,
          "referenceAllele": "A",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000415928.6:c.914A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388838.2:p.Tyr305Cys",
        "hgvsWellDefined": "ENSP00000388838.2:p.Tyr305Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824654"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1301,
          "referenceAllele": "A",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000435065.7:c.1145A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402760.2:p.Tyr382Cys",
        "hgvsWellDefined": "ENSP00000402760.2:p.Tyr382Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824868"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1186,
          "endIntronDirection": "-",
          "endIntronOffset": 65,
          "referenceAllele": "A",
          "start": 1186,
          "startIntronDirection": "-",
          "startIntronOffset": 66
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000448810.6:c.1053-66A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401860.2:n.1053-66A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824998"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1214,
          "referenceAllele": "A",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000685543.1:n.1214A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830135"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1226,
          "referenceAllele": "A",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000686757.1:c.*237A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510721.1:n.*237A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830725"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3758,
          "referenceAllele": "A",
          "start": 3757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000687740.1:n.3758A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831241"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2383,
          "referenceAllele": "A",
          "start": 2382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000688151.1:n.2383A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831464"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1054,
          "referenceAllele": "A",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000689271.1:c.920A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510797.1:p.Tyr307Cys",
        "hgvsWellDefined": "ENSP00000510797.1:p.Tyr307Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832084"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1178,
          "referenceAllele": "A",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000690900.1:c.*237A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510703.1:n.*237A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832936"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2685,
          "referenceAllele": "A",
          "start": 2684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692212.1:n.2685A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833603"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 326,
          "referenceAllele": "A",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692355.1:c.326A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1189,
          "referenceAllele": "A",
          "start": 1188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692413.1:c.1055A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509374.1:p.Tyr352Cys",
        "hgvsWellDefined": "ENSP00000509374.1:p.Tyr352Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833710"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1141,
          "referenceAllele": "A",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692825.1:c.1141A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509447.1:n.1141A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833907"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1255,
          "referenceAllele": "A",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000693308.1:c.1121A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509770.1:p.Tyr374Cys",
        "hgvsWellDefined": "ENSP00000509770.1:p.Tyr374Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834175"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2233,
          "referenceAllele": "A",
          "start": 2232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000693763.1:n.2233A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834419"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1336,
          "referenceAllele": "A",
          "start": 1335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000245407.8:c.1073A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000245407.3:p.Tyr358Cys",
        "hgvsWellDefined": "ENSP00000245407.3:p.Tyr358Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741243",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245407.8:c.1073A>G"
          },
          "RefSeq": {
            "hgvs": "NM_003060.4:c.1073A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245407.3:p.Tyr358Cys"
          },
          "RefSeq": {
            "hgvs": "NP_003051.1:p.Tyr358Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1294,
          "referenceAllele": "A",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000245407.7:c.1073A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000245407.3:p.Tyr358Cys",
        "hgvsWellDefined": "ENSP00000245407.3:p.Tyr358Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249376"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1145,
          "referenceAllele": "A",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000435065.6:c.1145A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402760.2:p.Tyr382Cys",
        "hgvsWellDefined": "ENSP00000402760.2:p.Tyr382Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293343"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 111,
          "endIntronDirection": "+",
          "endIntronOffset": 1689,
          "referenceAllele": "A",
          "start": 111,
          "startIntronDirection": "+",
          "startIntronOffset": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000447841.5:c.111+1689A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS299453"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 400,
          "endIntronDirection": "-",
          "endIntronOffset": 65,
          "referenceAllele": "A",
          "start": 400,
          "startIntronDirection": "-",
          "startIntronOffset": 66
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000448810.5:c.401-66A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS299893"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8495,
          "referenceAllele": "A",
          "start": 8494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000461013.5:n.8495A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305630"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1751,
          "referenceAllele": "A",
          "start": 1750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000475308.1:n.1751A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316619"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 176,
          "referenceAllele": "A",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000479605.5:n.176A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319944"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580195454",
      "coordinates": [
        {
          "allele": "G",
          "end": 1409,
          "referenceAllele": "A",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_001308122.1:c.1145A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295051.1:p.Tyr382Cys",
        "hgvsWellDefined": "NP_001295051.1:p.Tyr382Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829419256",
      "coordinates": [
        {
          "allele": "G",
          "end": 1337,
          "referenceAllele": "A",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_003060.3:c.1073A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003051.1:p.Tyr358Cys",
        "hgvsWellDefined": "NP_003051.1:p.Tyr358Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028339"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 543,
          "referenceAllele": "A",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XM_011543590.1:c.455A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541892.1:p.Tyr152Cys",
        "hgvsWellDefined": "XP_011541892.1:p.Tyr152Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110508"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1433,
          "referenceAllele": "A",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_427718.1:n.1433A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117842"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1393,
          "endIntronDirection": "+",
          "endIntronOffset": 1689,
          "referenceAllele": "A",
          "start": 1393,
          "startIntronDirection": "+",
          "startIntronOffset": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948290.1:n.1393+1689A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141868"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1427,
          "referenceAllele": "A",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948291.1:n.1427A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 927,
          "referenceAllele": "A",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XM_011543590.2:c.455A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541892.1:p.Tyr152Cys",
        "hgvsWellDefined": "XP_011541892.1:p.Tyr152Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555294"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 636,
          "referenceAllele": "A",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XM_017009778.2:c.545A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865267.1:p.Tyr182Cys",
        "hgvsWellDefined": "XP_016865267.1:p.Tyr182Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563996"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1393,
          "endIntronDirection": "-",
          "endIntronOffset": 65,
          "referenceAllele": "A",
          "start": 1393,
          "startIntronDirection": "-",
          "startIntronOffset": 66
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_001742215.1:n.1394-66A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591988"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1412,
          "endIntronDirection": "-",
          "endIntronOffset": 65,
          "referenceAllele": "A",
          "start": 1412,
          "startIntronDirection": "-",
          "startIntronOffset": 66
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_001742216.1:n.1413-66A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1433,
          "referenceAllele": "A",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_427718.2:n.1433A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606473"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1393,
          "endIntronDirection": "+",
          "endIntronOffset": 1689,
          "referenceAllele": "A",
          "start": 1393,
          "startIntronDirection": "+",
          "startIntronOffset": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948290.2:n.1393+1689A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1427,
          "referenceAllele": "A",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948291.2:n.1427A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614990"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829419256",
      "coordinates": [
        {
          "allele": "G",
          "end": 1336,
          "referenceAllele": "A",
          "start": 1335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_003060.4:c.1073A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003051.1:p.Tyr358Cys",
        "hgvsWellDefined": "NP_003051.1:p.Tyr358Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695718",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245407.8:c.1073A>G"
          },
          "RefSeq": {
            "hgvs": "NM_003060.4:c.1073A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245407.3:p.Tyr358Cys"
          },
          "RefSeq": {
            "hgvs": "NP_003051.1:p.Tyr358Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580195454",
      "coordinates": [
        {
          "allele": "G",
          "end": 1408,
          "referenceAllele": "A",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_001308122.2:c.1145A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295051.1:p.Tyr382Cys",
        "hgvsWellDefined": "NP_001295051.1:p.Tyr382Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717230"
    }
  ],
  "type": "nucleotide"
}