{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA213347",
  "communityStandardTitle": [
    "NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214825[alleleid]",
        "alleleId": 214825,
        "preferredName": "NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/218173",
        "RCV": [
          "RCV000202397",
          "RCV003226911"
        ],
        "variationId": 218173
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-6607319-G-A",
        "id": "17-6607319-G-A",
        "variant": "17:6607319 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.6607319G>A?assembly=hg19",
        "id": "chr17:g.6607319G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.6704000G>A?assembly=hg38",
        "id": "chr17:g.6704000G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/761917087",
        "rs": 761917087
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-6607319-G-A?dataset=gnomad_r2_1",
        "id": "17-6607319-G-A",
        "variant": "17:6607319 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-6704000-G-A?dataset=gnomad_r3",
        "id": "17-6704000-G-A",
        "variant": "17:6704000 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-6704000-G-A?dataset=gnomad_r4",
        "id": "17-6704000-G-A",
        "variant": "17:6704000 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 6704000,
          "referenceAllele": "G",
          "start": 6703999
        }
      ],
      "hgvs": [
        "NC_000017.11:g.6704000G>A",
        "CM000679.2:g.6704000G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 6607319,
          "referenceAllele": "G",
          "start": 6607318
        }
      ],
      "hgvs": [
        "NC_000017.10:g.6607319G>A",
        "CM000679.1:g.6607319G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 6548043,
          "referenceAllele": "G",
          "start": 6548042
        }
      ],
      "hgvs": [
        "NC_000017.9:g.6548043G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14422,
          "referenceAllele": "C",
          "start": 14421
        }
      ],
      "hgvs": [
        "NG_034220.1:g.14422C>T",
        "LRG_1020:g.14422C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005810"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 461,
          "referenceAllele": "C",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "ENST00000433363.7:c.425C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406220.2:p.Thr142Met",
        "hgvsWellDefined": "ENSP00000406220.2:p.Thr142Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755453",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000433363.7:c.425C>T"
          },
          "RefSeq": {
            "hgvs": "NM_177550.5:c.425C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406220.2:p.Thr142Met"
          },
          "RefSeq": {
            "hgvs": "NP_808218.1:p.Thr142Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 410,
          "referenceAllele": "C",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "ENST00000293800.10:c.374C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293800.6:p.Thr125Met",
        "hgvsWellDefined": "ENSP00000293800.6:p.Thr125Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 329,
          "referenceAllele": "C",
          "start": 328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "ENST00000381074.8:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370464.4:p.Thr99Met",
        "hgvsWellDefined": "ENSP00000370464.4:p.Thr99Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273207"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 659,
          "referenceAllele": "C",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "ENST00000433363.6:c.425C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406220.2:p.Thr142Met",
        "hgvsWellDefined": "ENSP00000406220.2:p.Thr142Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292502"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "referenceAllele": "C",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "ENST00000572094.1:c.*175C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461495.1:n.*175C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 350,
          "referenceAllele": "C",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "ENST00000572352.5:c.314C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461622.1:p.Thr105Met",
        "hgvsWellDefined": "ENSP00000461622.1:p.Thr105Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 469,
          "referenceAllele": "C",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "ENST00000573648.5:c.425C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459372.1:p.Thr142Met",
        "hgvsWellDefined": "ENSP00000459372.1:p.Thr142Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1558,
          "referenceAllele": "C",
          "start": 1557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "ENST00000574824.5:n.1558C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383849"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 455,
          "referenceAllele": "C",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "ENST00000576323.1:n.455C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825858000",
      "coordinates": [
        {
          "allele": "T",
          "end": 513,
          "referenceAllele": "C",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "NM_001143838.2:c.425C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137310.1:p.Thr142Met",
        "hgvsWellDefined": "NP_001137310.1:p.Thr142Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826691992",
      "coordinates": [
        {
          "allele": "T",
          "end": 462,
          "referenceAllele": "C",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "NM_001284509.1:c.374C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271438.1:p.Thr125Met",
        "hgvsWellDefined": "NP_001271438.1:p.Thr125Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022646"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916014259",
      "coordinates": [
        {
          "allele": "T",
          "end": 384,
          "referenceAllele": "C",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "NM_001284510.1:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271439.1:p.Thr99Met",
        "hgvsWellDefined": "NP_001271439.1:p.Thr99Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022647"
    },
    {
      "@id": "http://reg.genome.network/allele/PA213348",
      "coordinates": [
        {
          "allele": "T",
          "end": 513,
          "referenceAllele": "C",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "NM_177550.4:c.425C>T",
        "LRG_1020t1:c.425C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_808218.1:p.Thr142Met",
        "hgvsWellDefined": "NP_808218.1:p.Thr142Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 373,
          "referenceAllele": "C",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "XM_006721504.2:c.314C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721567.1:p.Thr105Met",
        "hgvsWellDefined": "XP_006721567.1:p.Thr105Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 503,
          "referenceAllele": "C",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "XM_011523795.1:c.425C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522097.1:p.Thr142Met",
        "hgvsWellDefined": "XP_011522097.1:p.Thr142Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 492,
          "referenceAllele": "C",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "XM_011523795.3:c.425C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522097.1:p.Thr142Met",
        "hgvsWellDefined": "XP_011522097.1:p.Thr142Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825858000",
      "coordinates": [
        {
          "allele": "T",
          "end": 461,
          "referenceAllele": "C",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "NM_001143838.3:c.425C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137310.1:p.Thr142Met",
        "hgvsWellDefined": "NP_001137310.1:p.Thr142Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677668"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826691992",
      "coordinates": [
        {
          "allele": "T",
          "end": 410,
          "referenceAllele": "C",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "NM_001284509.2:c.374C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271438.1:p.Thr125Met",
        "hgvsWellDefined": "NP_001271438.1:p.Thr125Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682099"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916014259",
      "coordinates": [
        {
          "allele": "T",
          "end": 332,
          "referenceAllele": "C",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "NM_001284510.2:c.296C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271439.1:p.Thr99Met",
        "hgvsWellDefined": "NP_001271439.1:p.Thr99Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682100"
    },
    {
      "@id": "http://reg.genome.network/allele/PA213348",
      "coordinates": [
        {
          "allele": "T",
          "end": 461,
          "referenceAllele": "C",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023089",
      "geneNCBI_id": 284111,
      "geneSymbol": "SLC13A5",
      "hgvs": [
        "NM_177550.5:c.425C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_808218.1:p.Thr142Met",
        "hgvsWellDefined": "NP_808218.1:p.Thr142Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700795",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000433363.7:c.425C>T"
          },
          "RefSeq": {
            "hgvs": "NM_177550.5:c.425C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406220.2:p.Thr142Met"
          },
          "RefSeq": {
            "hgvs": "NP_808218.1:p.Thr142Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}