{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA312686",
  "communityStandardTitle": [
    "NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=200096[alleleid]",
        "alleleId": 200096,
        "preferredName": "NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/203803",
        "RCV": [
          "RCV001378263"
        ],
        "variationId": 203803
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-70900189-C-T",
        "id": "5-70900189-C-T",
        "variant": "5:70900189 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.70900189C>T?assembly=hg19",
        "id": "chr5:g.70900189C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.71604362C>T?assembly=hg38",
        "id": "chr5:g.71604362C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/752866557",
        "rs": 752866557
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-70900189-C-T?dataset=gnomad_r2_1",
        "id": "5-70900189-C-T",
        "variant": "5:70900189 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-71604362-C-T?dataset=gnomad_r3",
        "id": "5-71604362-C-T",
        "variant": "5:71604362 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-71604362-C-T?dataset=gnomad_r4",
        "id": "5-71604362-C-T",
        "variant": "5:71604362 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 71604362,
          "referenceAllele": "C",
          "start": 71604361
        }
      ],
      "hgvs": [
        "NC_000005.10:g.71604362C>T",
        "CM000667.2:g.71604362C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 70900189,
          "referenceAllele": "C",
          "start": 70900188
        }
      ],
      "hgvs": [
        "NC_000005.9:g.70900189C>T",
        "CM000667.1:g.70900189C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 70935945,
          "referenceAllele": "C",
          "start": 70935944
        }
      ],
      "hgvs": [
        "NC_000005.8:g.70935945C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22075,
          "referenceAllele": "C",
          "start": 22074
        }
      ],
      "hgvs": [
        "NG_008882.1:g.22075C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001277"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 588,
          "referenceAllele": "C",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000505435.4:n.588C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825519"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2358,
          "referenceAllele": "C",
          "start": 2357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000505787.8:n.2358C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825520"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 604,
          "referenceAllele": "C",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000509358.7:c.518C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420994.3:p.Ser173Leu",
        "hgvsWellDefined": "ENSP00000420994.3:p.Ser173Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825550"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 641,
          "referenceAllele": "C",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000510895.7:n.641C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825572"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 627,
          "referenceAllele": "C",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000629193.3:c.518C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486535.2:p.Ser173Leu",
        "hgvsWellDefined": "ENSP00000486535.2:p.Ser173Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826618"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 554,
          "referenceAllele": "C",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000681968.1:c.125C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508143.1:p.Ser42Leu",
        "hgvsWellDefined": "ENSP00000508143.1:p.Ser42Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 453,
          "referenceAllele": "C",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000682045.1:c.374C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507329.1:p.Ser125Leu",
        "hgvsWellDefined": "ENSP00000507329.1:p.Ser125Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 428,
          "referenceAllele": "C",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000682214.1:c.125C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507336.1:p.Ser42Leu",
        "hgvsWellDefined": "ENSP00000507336.1:p.Ser42Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1339,
          "referenceAllele": "C",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000682499.1:n.1339C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827489"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 648,
          "referenceAllele": "C",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000682541.1:c.518C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507673.1:p.Ser173Leu",
        "hgvsWellDefined": "ENSP00000507673.1:p.Ser173Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 635,
          "referenceAllele": "C",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000682687.1:c.518C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507945.1:p.Ser173Leu",
        "hgvsWellDefined": "ENSP00000507945.1:p.Ser173Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 648,
          "referenceAllele": "C",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000682727.1:c.518C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507393.1:p.Ser173Leu",
        "hgvsWellDefined": "ENSP00000507393.1:p.Ser173Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827716"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 627,
          "referenceAllele": "C",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000682876.1:c.518C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508389.1:p.Ser173Leu",
        "hgvsWellDefined": "ENSP00000508389.1:p.Ser173Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827864"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 646,
          "referenceAllele": "C",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000683098.1:c.518C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507670.1:p.Ser173Leu",
        "hgvsWellDefined": "ENSP00000507670.1:p.Ser173Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 569,
          "referenceAllele": "C",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000683258.1:c.*239C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507448.1:n.*239C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828240"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 472,
          "referenceAllele": "C",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000683339.1:c.416C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507758.1:p.Ser139Leu",
        "hgvsWellDefined": "ENSP00000507758.1:p.Ser139Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828320"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 638,
          "referenceAllele": "C",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000683403.1:c.518C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507896.1:p.Ser173Leu",
        "hgvsWellDefined": "ENSP00000507896.1:p.Ser173Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828381"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 498,
          "referenceAllele": "C",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000683429.1:c.125C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507697.1:p.Ser42Leu",
        "hgvsWellDefined": "ENSP00000507697.1:p.Ser42Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 664,
          "referenceAllele": "C",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000683665.1:c.518C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507068.1:p.Ser173Leu",
        "hgvsWellDefined": "ENSP00000507068.1:p.Ser173Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828636"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 668,
          "referenceAllele": "C",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000683789.1:c.518C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507012.1:p.Ser173Leu",
        "hgvsWellDefined": "ENSP00000507012.1:p.Ser173Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828760"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 640,
          "referenceAllele": "C",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000683882.1:c.518C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506735.1:p.Ser173Leu",
        "hgvsWellDefined": "ENSP00000506735.1:p.Ser173Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828849"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 486,
          "referenceAllele": "C",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000684024.1:c.*189C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507175.1:n.*189C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828985"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 574,
          "referenceAllele": "C",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000684254.1:c.*244C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508001.1:n.*244C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829211"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 604,
          "referenceAllele": "C",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000340941.11:c.518C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343657.6:p.Ser173Leu",
        "hgvsWellDefined": "ENSP00000343657.6:p.Ser173Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747947",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340941.11:c.518C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022132.5:c.518C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343657.6:p.Ser173Leu"
          },
          "RefSeq": {
            "hgvs": "NP_071415.1:p.Ser173Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 647,
          "referenceAllele": "C",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000340941.10:c.518C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343657.6:p.Ser173Leu",
        "hgvsWellDefined": "ENSP00000343657.6:p.Ser173Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 332,
          "referenceAllele": "C",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000505787.7:n.332C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 614,
          "referenceAllele": "C",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000509358.6:c.518C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420994.2:p.Ser173Leu",
        "hgvsWellDefined": "ENSP00000420994.2:p.Ser173Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340140"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 132,
          "referenceAllele": "C",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000510895.6:n.132C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341285"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000512218.6:c.518C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423202.2:p.Ser173Leu",
        "hgvsWellDefined": "ENSP00000423202.2:p.Ser173Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342302"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000629193.2:c.518C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486535.1:p.Ser173Leu",
        "hgvsWellDefined": "ENSP00000486535.1:p.Ser173Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110349",
      "coordinates": [
        {
          "allele": "T",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "NM_022132.4:c.518C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071415.1:p.Ser173Leu",
        "hgvsWellDefined": "NP_071415.1:p.Ser173Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 558,
          "referenceAllele": "C",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "XM_005248567.1:c.518C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248624.1:p.Ser173Leu",
        "hgvsWellDefined": "XP_005248624.1:p.Ser173Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058491"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 558,
          "referenceAllele": "C",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "XM_011543528.1:c.518C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541830.1:p.Ser173Leu",
        "hgvsWellDefined": "XP_011541830.1:p.Ser173Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110446"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 558,
          "referenceAllele": "C",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "XM_011543529.1:c.518C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541831.1:p.Ser173Leu",
        "hgvsWellDefined": "XP_011541831.1:p.Ser173Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110447"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828079948",
      "coordinates": [
        {
          "allele": "T",
          "end": 604,
          "referenceAllele": "C",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "NM_001363147.1:c.518C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350076.1:p.Ser173Leu",
        "hgvsWellDefined": "NP_001350076.1:p.Ser173Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 558,
          "referenceAllele": "C",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "XM_011543529.2:c.518C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541831.1:p.Ser173Leu",
        "hgvsWellDefined": "XP_011541831.1:p.Ser173Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 558,
          "referenceAllele": "C",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "XM_017009688.1:c.518C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865177.1:p.Ser173Leu",
        "hgvsWellDefined": "XP_016865177.1:p.Ser173Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563924"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 558,
          "referenceAllele": "C",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "XR_001742172.1:n.558C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591972"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110349",
      "coordinates": [
        {
          "allele": "T",
          "end": 604,
          "referenceAllele": "C",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "NM_022132.5:c.518C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071415.1:p.Ser173Leu",
        "hgvsWellDefined": "NP_071415.1:p.Ser173Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670390",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340941.11:c.518C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022132.5:c.518C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343657.6:p.Ser173Leu"
          },
          "RefSeq": {
            "hgvs": "NP_071415.1:p.Ser173Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}