{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6029417",
  "communityStandardTitle": [
    "NM_016582.3(SLC15A3):c.1465C>T (p.Arg489Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2202468[alleleid]",
        "alleleId": 2202468,
        "preferredName": "NM_016582.3(SLC15A3):c.1465C>T (p.Arg489Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2216871",
        "RCV": [
          "RCV004080771"
        ],
        "variationId": 2216871
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-60705468-G-A",
        "id": "11-60705468-G-A",
        "variant": "11:60705468 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.60705468G>A?assembly=hg19",
        "id": "chr11:g.60705468G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.60937996G>A?assembly=hg38",
        "id": "chr11:g.60937996G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/367924777",
        "rs": 367924777
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-60705468-G-A?dataset=gnomad_r2_1",
        "id": "11-60705468-G-A",
        "variant": "11:60705468 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-60937996-G-A?dataset=gnomad_r3",
        "id": "11-60937996-G-A",
        "variant": "11:60937996 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-60937996-G-A?dataset=gnomad_r4",
        "id": "11-60937996-G-A",
        "variant": "11:60937996 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 60937996,
          "referenceAllele": "G",
          "start": 60937995
        }
      ],
      "hgvs": [
        "NC_000011.10:g.60937996G>A",
        "CM000673.2:g.60937996G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 60705468,
          "referenceAllele": "G",
          "start": 60705467
        }
      ],
      "hgvs": [
        "NC_000011.9:g.60705468G>A",
        "CM000673.1:g.60705468G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 60462044,
          "referenceAllele": "G",
          "start": 60462043
        }
      ],
      "hgvs": [
        "NC_000011.8:g.60462044G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2090,
          "referenceAllele": "C",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018068",
      "geneNCBI_id": 51296,
      "geneSymbol": "SLC15A3",
      "hgvs": [
        "ENST00000227880.8:c.1465C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000227880.2:p.Arg489Cys",
        "hgvsWellDefined": "ENSP00000227880.2:p.Arg489Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740736",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000227880.8:c.1465C>T"
          },
          "RefSeq": {
            "hgvs": "NM_016582.3:c.1465C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000227880.2:p.Arg489Cys"
          },
          "RefSeq": {
            "hgvs": "NP_057666.1:p.Arg489Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 952,
          "referenceAllele": "C",
          "start": 951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018068",
      "geneNCBI_id": 51296,
      "geneSymbol": "SLC15A3",
      "hgvs": [
        "ENST00000536491.2:c.904C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439535.2:p.Arg302Cys",
        "hgvsWellDefined": "ENSP00000439535.2:p.Arg302Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759487"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 808,
          "referenceAllele": "C",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018068",
      "geneNCBI_id": 51296,
      "geneSymbol": "SLC15A3",
      "hgvs": [
        "ENST00000536784.6:c.735C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441694.2:p.Arg245="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759501"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1433,
          "referenceAllele": "C",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018068",
      "geneNCBI_id": 51296,
      "geneSymbol": "SLC15A3",
      "hgvs": [
        "ENST00000538739.2:c.1066C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441559.2:p.Arg356Cys",
        "hgvsWellDefined": "ENSP00000441559.2:p.Arg356Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759571"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2084,
          "referenceAllele": "C",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018068",
      "geneNCBI_id": 51296,
      "geneSymbol": "SLC15A3",
      "hgvs": [
        "ENST00000679573.1:c.1459C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505011.1:p.Arg487Cys",
        "hgvsWellDefined": "ENSP00000505011.1:p.Arg487Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779201"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1994,
          "referenceAllele": "C",
          "start": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018068",
      "geneNCBI_id": 51296,
      "geneSymbol": "SLC15A3",
      "hgvs": [
        "ENST00000681275.1:c.1465C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505077.1:p.Arg489Cys",
        "hgvsWellDefined": "ENSP00000505077.1:p.Arg489Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2054,
          "endIntronDirection": "-",
          "endIntronOffset": 622,
          "referenceAllele": "C",
          "start": 2054,
          "startIntronDirection": "-",
          "startIntronOffset": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018068",
      "geneNCBI_id": 51296,
      "geneSymbol": "SLC15A3",
      "hgvs": [
        "ENST00000681882.1:c.1430-623C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506396.1:n.1430-623C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781482"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1885,
          "endIntronDirection": "-",
          "endIntronOffset": 622,
          "referenceAllele": "C",
          "start": 1885,
          "startIntronDirection": "-",
          "startIntronOffset": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018068",
      "geneNCBI_id": 51296,
      "geneSymbol": "SLC15A3",
      "hgvs": [
        "ENST00000681951.1:c.1261-623C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506057.1:n.1261-623C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781549"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1699,
          "referenceAllele": "C",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018068",
      "geneNCBI_id": 51296,
      "geneSymbol": "SLC15A3",
      "hgvs": [
        "ENST00000227880.7:c.1465C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000227880.2:p.Arg489Cys",
        "hgvsWellDefined": "ENSP00000227880.2:p.Arg489Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248604"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 462,
          "referenceAllele": "C",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018068",
      "geneNCBI_id": 51296,
      "geneSymbol": "SLC15A3",
      "hgvs": [
        "ENST00000537307.1:c.462C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1391,
          "referenceAllele": "C",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018068",
      "geneNCBI_id": 51296,
      "geneSymbol": "SLC15A3",
      "hgvs": [
        "ENST00000541505.5:c.1296C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445773.1:p.Arg432="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4170,
          "referenceAllele": "C",
          "start": 4169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018068",
      "geneNCBI_id": 51296,
      "geneSymbol": "SLC15A3",
      "hgvs": [
        "ENST00000543406.1:n.4170C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 137,
          "referenceAllele": "C",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018068",
      "geneNCBI_id": 51296,
      "geneSymbol": "SLC15A3",
      "hgvs": [
        "ENST00000544101.1:n.137C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364382"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1698,
          "referenceAllele": "C",
          "start": 1697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018068",
      "geneNCBI_id": 51296,
      "geneSymbol": "SLC15A3",
      "hgvs": [
        "ENST00000618622.4:c.*522C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479400.1:n.*522C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1390,
          "referenceAllele": "C",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018068",
      "geneNCBI_id": 51296,
      "geneSymbol": "SLC15A3",
      "hgvs": [
        "ENST00000621824.4:c.*353C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484264.1:n.*353C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405457"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580412818",
      "coordinates": [
        {
          "allele": "T",
          "end": 1699,
          "referenceAllele": "C",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018068",
      "geneNCBI_id": 51296,
      "geneSymbol": "SLC15A3",
      "hgvs": [
        "NM_016582.2:c.1465C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057666.1:p.Arg489Cys",
        "hgvsWellDefined": "NP_057666.1:p.Arg489Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034804"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1530,
          "referenceAllele": "C",
          "start": 1529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018068",
      "geneNCBI_id": 51296,
      "geneSymbol": "SLC15A3",
      "hgvs": [
        "NR_027391.1:n.1530C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS047717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2438,
          "referenceAllele": "C",
          "start": 2437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018068",
      "geneNCBI_id": 51296,
      "geneSymbol": "SLC15A3",
      "hgvs": [
        "XM_011545095.1:c.1465C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543397.1:p.Arg489Cys",
        "hgvsWellDefined": "XP_011543397.1:p.Arg489Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2271,
          "referenceAllele": "C",
          "start": 2270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018068",
      "geneNCBI_id": 51296,
      "geneSymbol": "SLC15A3",
      "hgvs": [
        "XR_949960.1:n.2271C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1994,
          "referenceAllele": "C",
          "start": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018068",
      "geneNCBI_id": 51296,
      "geneSymbol": "SLC15A3",
      "hgvs": [
        "XM_011545095.2:c.1465C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543397.1:p.Arg489Cys",
        "hgvsWellDefined": "XP_011543397.1:p.Arg489Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1826,
          "referenceAllele": "C",
          "start": 1825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018068",
      "geneNCBI_id": 51296,
      "geneSymbol": "SLC15A3",
      "hgvs": [
        "XR_949960.2:n.1826C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580412818",
      "coordinates": [
        {
          "allele": "T",
          "end": 2090,
          "referenceAllele": "C",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018068",
      "geneNCBI_id": 51296,
      "geneSymbol": "SLC15A3",
      "hgvs": [
        "NM_016582.3:c.1465C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057666.1:p.Arg489Cys",
        "hgvsWellDefined": "NP_057666.1:p.Arg489Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669191",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000227880.8:c.1465C>T"
          },
          "RefSeq": {
            "hgvs": "NM_016582.3:c.1465C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000227880.2:p.Arg489Cys"
          },
          "RefSeq": {
            "hgvs": "NP_057666.1:p.Arg489Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1921,
          "referenceAllele": "C",
          "start": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018068",
      "geneNCBI_id": 51296,
      "geneSymbol": "SLC15A3",
      "hgvs": [
        "NR_027391.2:n.1921C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701941"
    }
  ],
  "type": "nucleotide"
}