{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA360804805",
  "communityStandardTitle": [
    "NM_003060.4(SLC22A5):c.592G>T (p.Val198Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=621908[alleleid]",
        "alleleId": 621908,
        "preferredName": "NM_003060.4(SLC22A5):c.592G>T (p.Val198Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/633467",
        "RCV": [
          "RCV000781949"
        ],
        "variationId": 633467
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.131719933G>T?assembly=hg19",
        "id": "chr5:g.131719933G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.132384241G>T?assembly=hg38",
        "id": "chr5:g.132384241G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/757979350",
        "rs": 757979350
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-131719933-G-T?dataset=gnomad_r2_1",
        "id": "5-131719933-G-T",
        "variant": "5:131719933 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-132384241-G-T?dataset=gnomad_r4",
        "id": "5-132384241-G-T",
        "variant": "5:132384241 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 132384241,
          "referenceAllele": "G",
          "start": 132384240
        }
      ],
      "hgvs": [
        "NC_000005.10:g.132384241G>T",
        "CM000667.2:g.132384241G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 131719933,
          "referenceAllele": "G",
          "start": 131719932
        }
      ],
      "hgvs": [
        "NC_000005.9:g.131719933G>T",
        "CM000667.1:g.131719933G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 131747832,
          "referenceAllele": "G",
          "start": 131747831
        }
      ],
      "hgvs": [
        "NC_000005.8:g.131747832G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19533,
          "referenceAllele": "G",
          "start": 19532
        }
      ],
      "hgvs": [
        "NG_008982.1:g.19533G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001353"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19538,
          "referenceAllele": "G",
          "start": 19537
        }
      ],
      "hgvs": [
        "NG_008982.2:g.19538G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616121"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 726,
          "referenceAllele": "G",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000415928.6:c.592G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388838.2:p.Val198Leu",
        "hgvsWellDefined": "ENSP00000388838.2:p.Val198Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824654"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 820,
          "referenceAllele": "G",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000435065.7:c.664G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402760.2:p.Val222Leu",
        "hgvsWellDefined": "ENSP00000402760.2:p.Val222Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824868"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 726,
          "referenceAllele": "G",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000448810.6:c.592G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401860.2:p.Val198Leu",
        "hgvsWellDefined": "ENSP00000401860.2:p.Val198Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824998"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 726,
          "referenceAllele": "G",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000686757.1:c.592G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510721.1:p.Val198Leu",
        "hgvsWellDefined": "ENSP00000510721.1:p.Val198Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 726,
          "referenceAllele": "G",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000687740.1:n.726G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831241"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1771,
          "referenceAllele": "G",
          "start": 1770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000688151.1:n.1771G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831464"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 726,
          "referenceAllele": "G",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000689271.1:c.592G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510797.1:p.Val198Leu",
        "hgvsWellDefined": "ENSP00000510797.1:p.Val198Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 726,
          "referenceAllele": "G",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000690900.1:c.592G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510703.1:p.Val198Leu",
        "hgvsWellDefined": "ENSP00000510703.1:p.Val198Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832936"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 144,
          "referenceAllele": "G",
          "start": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692355.1:c.144G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 726,
          "referenceAllele": "G",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692413.1:c.592G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509374.1:p.Val198Leu",
        "hgvsWellDefined": "ENSP00000509374.1:p.Val198Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 660,
          "referenceAllele": "G",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000692825.1:c.660G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509447.1:n.660G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 726,
          "referenceAllele": "G",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000693308.1:c.592G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509770.1:p.Val198Leu",
        "hgvsWellDefined": "ENSP00000509770.1:p.Val198Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834175"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 726,
          "referenceAllele": "G",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000693763.1:n.726G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 855,
          "referenceAllele": "G",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000245407.8:c.592G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000245407.3:p.Val198Leu",
        "hgvsWellDefined": "ENSP00000245407.3:p.Val198Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741243",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245407.8:c.592G>T"
          },
          "RefSeq": {
            "hgvs": "NM_003060.4:c.592G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245407.3:p.Val198Leu"
          },
          "RefSeq": {
            "hgvs": "NP_003051.1:p.Val198Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 813,
          "referenceAllele": "G",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000245407.7:c.592G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000245407.3:p.Val198Leu",
        "hgvsWellDefined": "ENSP00000245407.3:p.Val198Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 361,
          "referenceAllele": "G",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000415928.5:c.361G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388838.1:p.Val121Leu",
        "hgvsWellDefined": "ENSP00000388838.1:p.Val121Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284222"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 664,
          "referenceAllele": "G",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000435065.6:c.664G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402760.2:p.Val222Leu",
        "hgvsWellDefined": "ENSP00000402760.2:p.Val222Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293343"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "endIntronDirection": "-",
          "endIntronOffset": 1086,
          "referenceAllele": "G",
          "start": 466,
          "startIntronDirection": "-",
          "startIntronOffset": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000437841.6:c.394-1087G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400553.1:n.394-1087G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294648"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8014,
          "referenceAllele": "G",
          "start": 8013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "ENST00000461013.5:n.8014G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913201613",
      "coordinates": [
        {
          "allele": "T",
          "end": 928,
          "referenceAllele": "G",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_001308122.1:c.664G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295051.1:p.Val222Leu",
        "hgvsWellDefined": "NP_001295051.1:p.Val222Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829418995",
      "coordinates": [
        {
          "allele": "T",
          "end": 856,
          "referenceAllele": "G",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_003060.3:c.592G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003051.1:p.Val198Leu",
        "hgvsWellDefined": "NP_003051.1:p.Val198Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 49,
          "referenceAllele": "G",
          "start": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XM_011543590.1:c.-40G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541892.1:n.-40G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110508"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 933,
          "referenceAllele": "G",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_427718.1:n.933G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117842"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 933,
          "referenceAllele": "G",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948290.1:n.933G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141868"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 933,
          "referenceAllele": "G",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948291.1:n.933G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 433,
          "referenceAllele": "G",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XM_011543590.2:c.-40G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541892.1:n.-40G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555294"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 155,
          "referenceAllele": "G",
          "start": 154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XM_017009778.2:c.64G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865267.1:p.Val22Leu",
        "hgvsWellDefined": "XP_016865267.1:p.Val22Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563996"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 933,
          "referenceAllele": "G",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_001742215.1:n.933G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591988"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 933,
          "referenceAllele": "G",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_001742216.1:n.933G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 933,
          "referenceAllele": "G",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_427718.2:n.933G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606473"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 933,
          "referenceAllele": "G",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948290.2:n.933G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 933,
          "referenceAllele": "G",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948291.2:n.933G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614990"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829418995",
      "coordinates": [
        {
          "allele": "T",
          "end": 855,
          "referenceAllele": "G",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_003060.4:c.592G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003051.1:p.Val198Leu",
        "hgvsWellDefined": "NP_003051.1:p.Val198Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695718",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245407.8:c.592G>T"
          },
          "RefSeq": {
            "hgvs": "NM_003060.4:c.592G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245407.3:p.Val198Leu"
          },
          "RefSeq": {
            "hgvs": "NP_003051.1:p.Val198Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA913201613",
      "coordinates": [
        {
          "allele": "T",
          "end": 927,
          "referenceAllele": "G",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_001308122.2:c.664G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295051.1:p.Val222Leu",
        "hgvsWellDefined": "NP_001295051.1:p.Val222Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717230"
    }
  ],
  "type": "nucleotide"
}