{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10618146",
  "communityStandardTitle": [
    "NM_020166.5(MCCC1):c.768A>G (p.Val256=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6457683",
        "active": true,
        "id": "COSM6457683"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=293996[alleleid]",
        "alleleId": 293996,
        "preferredName": "NM_020166.5(MCCC1):c.768A>G (p.Val256=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/344310",
        "RCV": [
          "RCV000332695"
        ],
        "variationId": 344310
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.182775204T>C?assembly=hg19",
        "id": "chr3:g.182775204T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.183057416T>C?assembly=hg38",
        "id": "chr3:g.183057416T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/567236851",
        "rs": 567236851
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-182775204-T-C?dataset=gnomad_r2_1",
        "id": "3-182775204-T-C",
        "variant": "3:182775204 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-183057416-T-C?dataset=gnomad_r4",
        "id": "3-183057416-T-C",
        "variant": "3:183057416 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 183057416,
          "referenceAllele": "T",
          "start": 183057415
        }
      ],
      "hgvs": [
        "NC_000003.12:g.183057416T>C",
        "CM000665.2:g.183057416T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 182775204,
          "referenceAllele": "T",
          "start": 182775203
        }
      ],
      "hgvs": [
        "NC_000003.11:g.182775204T>C",
        "CM000665.1:g.182775204T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 184257898,
          "referenceAllele": "T",
          "start": 184257897
        }
      ],
      "hgvs": [
        "NC_000003.10:g.184257898T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 47162,
          "referenceAllele": "A",
          "start": 47161
        }
      ],
      "hgvs": [
        "NG_008100.1:g.47162A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000845"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 824,
          "referenceAllele": "A",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000265594.9:c.768A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265594.4:p.Val256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742855",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265594.9:c.768A>G"
          },
          "RefSeq": {
            "hgvs": "NM_020166.5:c.768A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265594.4:p.Val256="
          },
          "RefSeq": {
            "hgvs": "NP_064551.3:p.Val256="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 915,
          "referenceAllele": "A",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000265594.8:c.768A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265594.4:p.Val256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251776"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 737,
          "referenceAllele": "A",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000476176.5:c.627A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420433.1:p.Val209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317298"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1144,
          "referenceAllele": "A",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000492597.5:c.441A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419898.1:p.Val147="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329943"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 613,
          "referenceAllele": "A",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000495767.5:c.*349A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419658.1:n.*349A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332401"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 599,
          "referenceAllele": "A",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000497830.5:c.*365A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420088.1:n.*365A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333972"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1435,
          "referenceAllele": "A",
          "start": 1434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000497959.5:c.654A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420648.1:p.Val218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334071"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 528,
          "referenceAllele": "A",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000539926.5:c.318A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441253.2:p.Val106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362129"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 782,
          "referenceAllele": "A",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000610757.4:c.318A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480435.1:p.Val106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400560"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 905,
          "referenceAllele": "A",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000629669.2:c.654A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486824.1:p.Val218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407257"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826831310",
      "coordinates": [
        {
          "allele": "G",
          "end": 656,
          "referenceAllele": "A",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_001293273.1:c.417A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280202.1:p.Val139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024520"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829910578",
      "coordinates": [
        {
          "allele": "G",
          "end": 915,
          "referenceAllele": "A",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_020166.4:c.768A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_064551.3:p.Val256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 682,
          "referenceAllele": "A",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NR_120639.1:n.682A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055514"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1435,
          "referenceAllele": "A",
          "start": 1434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NR_120640.1:n.1435A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055515"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 721,
          "referenceAllele": "A",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XM_006713702.1:c.441A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713765.1:p.Val147="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070312"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1467,
          "referenceAllele": "A",
          "start": 1466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XM_011512992.1:c.654A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511294.1:p.Val218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080247"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 915,
          "referenceAllele": "A",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XM_011512993.1:c.768A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511295.1:p.Val256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080248"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 915,
          "referenceAllele": "A",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_241502.2:n.915A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116060"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 915,
          "referenceAllele": "A",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_924159.1:n.915A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828125639",
      "coordinates": [
        {
          "allele": "G",
          "end": 778,
          "referenceAllele": "A",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_001363880.1:c.441A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350809.1:p.Val147="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523624"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1513,
          "referenceAllele": "A",
          "start": 1512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XM_011512992.2:c.654A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511294.1:p.Val218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542749"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 891,
          "referenceAllele": "A",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_001740207.2:n.891A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590430"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 891,
          "referenceAllele": "A",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_001740208.2:n.891A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590431"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 861,
          "referenceAllele": "A",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_001740209.2:n.861A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590432"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 721,
          "referenceAllele": "A",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_001740210.1:n.721A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590433"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 891,
          "referenceAllele": "A",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_002959553.1:n.891A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 891,
          "referenceAllele": "A",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_002959554.1:n.891A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 861,
          "referenceAllele": "A",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_241502.3:n.861A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829910578",
      "coordinates": [
        {
          "allele": "G",
          "end": 824,
          "referenceAllele": "A",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_020166.5:c.768A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_064551.3:p.Val256="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669908",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265594.9:c.768A>G"
          },
          "RefSeq": {
            "hgvs": "NM_020166.5:c.768A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265594.4:p.Val256="
          },
          "RefSeq": {
            "hgvs": "NP_064551.3:p.Val256="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826831310",
      "coordinates": [
        {
          "allele": "G",
          "end": 565,
          "referenceAllele": "A",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_001293273.2:c.417A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280202.1:p.Val139="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716765"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 591,
          "referenceAllele": "A",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NR_120639.2:n.591A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730741"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1435,
          "referenceAllele": "A",
          "start": 1434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NR_120640.2:n.1435A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730742"
    }
  ],
  "type": "nucleotide"
}