{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342664",
  "communityStandardTitle": [
    "NM_003060.4(SLC22A5):c.902C>A (p.Ala301Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=36739[alleleid]",
        "alleleId": 36739,
        "preferredName": "NM_003060.4(SLC22A5):c.902C>A (p.Ala301Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1459138",
        "RCV": [
          "RCV001975156"
        ],
        "variationId": 1459138
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.131722794C>A?assembly=hg19",
        "id": "chr5:g.131722794C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.132387102C>A?assembly=hg38",
        "id": "chr5:g.132387102C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72552730",
        "rs": 72552730
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 132387102,
          "referenceAllele": "C",
          "start": 132387101
        }
      ],
      "hgvs": [
        "NC_000005.10:g.132387102C>A",
        "CM000667.2:g.132387102C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 131722794,
          "referenceAllele": "C",
          "start": 131722793
        }
      ],
      "hgvs": [
        "NC_000005.9:g.131722794C>A",
        "CM000667.1:g.131722794C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 131750693,
          "referenceAllele": "C",
          "start": 131750692
        }
      ],
      "hgvs": [
        "NC_000005.8:g.131750693C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22394,
          "referenceAllele": "C",
          "start": 22393
        }
      ],
      "hgvs": [
        "NG_008982.1:g.22394C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001353"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22399,
          "referenceAllele": "C",
          "start": 22398
        }
      ],
      "hgvs": [
        "NG_008982.2:g.22399C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616121"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 877,
          "referenceAllele": "C",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000415928.6:c.743C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388838.2:p.Ala248Asp",
        "hgvsWellDefined": "ENSP00000388838.2:p.Ala248Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824654"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1130,
          "referenceAllele": "C",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000435065.7:c.974C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402760.2:p.Ala325Asp",
        "hgvsWellDefined": "ENSP00000402760.2:p.Ala325Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1036,
          "referenceAllele": "C",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000448810.6:c.902C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401860.2:p.Ala301Asp",
        "hgvsWellDefined": "ENSP00000401860.2:p.Ala301Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824998"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1055,
          "referenceAllele": "C",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000686757.1:c.*66C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510721.1:n.*66C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3587,
          "referenceAllele": "C",
          "start": 3586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000687740.1:n.3587C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831241"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2212,
          "referenceAllele": "C",
          "start": 2211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000688151.1:n.2212C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831464"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 883,
          "referenceAllele": "C",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000689271.1:c.749C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510797.1:p.Ala250Asp",
        "hgvsWellDefined": "ENSP00000510797.1:p.Ala250Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1007,
          "referenceAllele": "C",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000690900.1:c.*66C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510703.1:n.*66C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832936"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 846,
          "referenceAllele": "C",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692212.1:n.846C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 204,
          "endIntronDirection": "-",
          "endIntronOffset": 1818,
          "referenceAllele": "C",
          "start": 204,
          "startIntronDirection": "-",
          "startIntronOffset": 1819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692355.1:c.205-1819C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1018,
          "referenceAllele": "C",
          "start": 1017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692413.1:c.884C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509374.1:p.Ala295Asp",
        "hgvsWellDefined": "ENSP00000509374.1:p.Ala295Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833710"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 970,
          "referenceAllele": "C",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692825.1:c.970C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509447.1:n.970C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1084,
          "referenceAllele": "C",
          "start": 1083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000693308.1:c.950C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509770.1:p.Ala317Asp",
        "hgvsWellDefined": "ENSP00000509770.1:p.Ala317Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834175"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2062,
          "referenceAllele": "C",
          "start": 2061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000693763.1:n.2062C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834419"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1165,
          "referenceAllele": "C",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000245407.8:c.902C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000245407.3:p.Ala301Asp",
        "hgvsWellDefined": "ENSP00000245407.3:p.Ala301Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741243",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245407.8:c.902C>A"
          },
          "RefSeq": {
            "hgvs": "NM_003060.4:c.902C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245407.3:p.Ala301Asp"
          },
          "RefSeq": {
            "hgvs": "NP_003051.1:p.Ala301Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1123,
          "referenceAllele": "C",
          "start": 1122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000245407.7:c.902C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000245407.3:p.Ala301Asp",
        "hgvsWellDefined": "ENSP00000245407.3:p.Ala301Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 671,
          "referenceAllele": "C",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000415928.5:c.671C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388838.1:p.Ala224Asp",
        "hgvsWellDefined": "ENSP00000388838.1:p.Ala224Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284222"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 974,
          "referenceAllele": "C",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000435065.6:c.974C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402760.2:p.Ala325Asp",
        "hgvsWellDefined": "ENSP00000402760.2:p.Ala325Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293343"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 716,
          "referenceAllele": "C",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000437841.6:c.*217C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400553.1:n.*217C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 250,
          "referenceAllele": "C",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000448810.5:c.250C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS299893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8324,
          "referenceAllele": "C",
          "start": 8323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000461013.5:n.8324C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916020789",
      "coordinates": [
        {
          "allele": "A",
          "end": 1238,
          "referenceAllele": "C",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_001308122.1:c.974C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295051.1:p.Ala325Asp",
        "hgvsWellDefined": "NP_001295051.1:p.Ala325Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108066",
      "coordinates": [
        {
          "allele": "A",
          "end": 1166,
          "referenceAllele": "C",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_003060.3:c.902C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003051.1:p.Ala301Asp",
        "hgvsWellDefined": "NP_003051.1:p.Ala301Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "referenceAllele": "C",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XM_011543590.1:c.284C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541892.1:p.Ala95Asp",
        "hgvsWellDefined": "XP_011541892.1:p.Ala95Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110508"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1262,
          "referenceAllele": "C",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_427718.1:n.1262C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117842"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1243,
          "referenceAllele": "C",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948290.1:n.1243C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1256,
          "referenceAllele": "C",
          "start": 1255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948291.1:n.1256C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 756,
          "referenceAllele": "C",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XM_011543590.2:c.284C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541892.1:p.Ala95Asp",
        "hgvsWellDefined": "XP_011541892.1:p.Ala95Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555294"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 465,
          "referenceAllele": "C",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XM_017009778.2:c.374C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865267.1:p.Ala125Asp",
        "hgvsWellDefined": "XP_016865267.1:p.Ala125Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1243,
          "referenceAllele": "C",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_001742215.1:n.1243C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591988"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1262,
          "referenceAllele": "C",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_001742216.1:n.1262C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1262,
          "referenceAllele": "C",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_427718.2:n.1262C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606473"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1243,
          "referenceAllele": "C",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948290.2:n.1243C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1256,
          "referenceAllele": "C",
          "start": 1255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948291.2:n.1256C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614990"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108066",
      "coordinates": [
        {
          "allele": "A",
          "end": 1165,
          "referenceAllele": "C",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_003060.4:c.902C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003051.1:p.Ala301Asp",
        "hgvsWellDefined": "NP_003051.1:p.Ala301Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695718",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245407.8:c.902C>A"
          },
          "RefSeq": {
            "hgvs": "NM_003060.4:c.902C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245407.3:p.Ala301Asp"
          },
          "RefSeq": {
            "hgvs": "NP_003051.1:p.Ala301Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916020789",
      "coordinates": [
        {
          "allele": "A",
          "end": 1237,
          "referenceAllele": "C",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_001308122.2:c.974C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295051.1:p.Ala325Asp",
        "hgvsWellDefined": "NP_001295051.1:p.Ala325Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717230"
    }
  ],
  "type": "nucleotide"
}