{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2718811",
  "communityStandardTitle": [
    "NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=421426[alleleid]",
        "alleleId": 421426,
        "preferredName": "NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/429421",
        "RCV": [
          "RCV000493467",
          "RCV001834597",
          "RCV002222532"
        ],
        "variationId": 429421
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-182756861-G-A",
        "id": "3-182756861-G-A",
        "variant": "3:182756861 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.182756861G>A?assembly=hg19",
        "id": "chr3:g.182756861G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.183039073G>A?assembly=hg38",
        "id": "chr3:g.183039073G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/375996272",
        "rs": 375996272
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-182756861-G-A?dataset=gnomad_r2_1",
        "id": "3-182756861-G-A",
        "variant": "3:182756861 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-183039073-G-A?dataset=gnomad_r3",
        "id": "3-183039073-G-A",
        "variant": "3:183039073 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-183039073-G-A?dataset=gnomad_r4",
        "id": "3-183039073-G-A",
        "variant": "3:183039073 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 183039073,
          "referenceAllele": "G",
          "start": 183039072
        }
      ],
      "hgvs": [
        "NC_000003.12:g.183039073G>A",
        "CM000665.2:g.183039073G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 182756861,
          "referenceAllele": "G",
          "start": 182756860
        }
      ],
      "hgvs": [
        "NC_000003.11:g.182756861G>A",
        "CM000665.1:g.182756861G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 184239555,
          "referenceAllele": "G",
          "start": 184239554
        }
      ],
      "hgvs": [
        "NC_000003.10:g.184239555G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 65505,
          "referenceAllele": "C",
          "start": 65504
        }
      ],
      "hgvs": [
        "NG_008100.1:g.65505C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000845"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1386,
          "referenceAllele": "C",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000265594.9:c.1330C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265594.4:p.Arg444Cys",
        "hgvsWellDefined": "ENSP00000265594.4:p.Arg444Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742855",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265594.9:c.1330C>T"
          },
          "RefSeq": {
            "hgvs": "NM_020166.5:c.1330C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265594.4:p.Arg444Cys"
          },
          "RefSeq": {
            "hgvs": "NP_064551.3:p.Arg444Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1477,
          "referenceAllele": "C",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000265594.8:c.1330C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265594.4:p.Arg444Cys",
        "hgvsWellDefined": "ENSP00000265594.4:p.Arg444Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1299,
          "referenceAllele": "C",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000476176.5:c.1189C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420433.1:p.Arg397Cys",
        "hgvsWellDefined": "ENSP00000420433.1:p.Arg397Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1706,
          "referenceAllele": "C",
          "start": 1705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000492597.5:c.1003C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419898.1:p.Arg335Cys",
        "hgvsWellDefined": "ENSP00000419898.1:p.Arg335Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329943"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1175,
          "referenceAllele": "C",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000495767.5:c.*911C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419658.1:n.*911C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1161,
          "referenceAllele": "C",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000497830.5:c.*927C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420088.1:n.*927C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333972"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1997,
          "referenceAllele": "C",
          "start": 1996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000497959.5:c.1216C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420648.1:p.Arg406Cys",
        "hgvsWellDefined": "ENSP00000420648.1:p.Arg406Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1090,
          "referenceAllele": "C",
          "start": 1089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000539926.5:c.880C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441253.2:p.Arg294Cys",
        "hgvsWellDefined": "ENSP00000441253.2:p.Arg294Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1344,
          "referenceAllele": "C",
          "start": 1343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000610757.4:c.880C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480435.1:p.Arg294Cys",
        "hgvsWellDefined": "ENSP00000480435.1:p.Arg294Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400560"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1467,
          "referenceAllele": "C",
          "start": 1466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000629669.2:c.1216C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486824.1:p.Arg406Cys",
        "hgvsWellDefined": "ENSP00000486824.1:p.Arg406Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407257"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826831445",
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "C",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_001293273.1:c.979C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280202.1:p.Arg327Cys",
        "hgvsWellDefined": "NP_001280202.1:p.Arg327Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024520"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645416282",
      "coordinates": [
        {
          "allele": "T",
          "end": 1477,
          "referenceAllele": "C",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_020166.4:c.1330C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_064551.3:p.Arg444Cys",
        "hgvsWellDefined": "NP_064551.3:p.Arg444Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1244,
          "referenceAllele": "C",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NR_120639.1:n.1244C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055514"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1997,
          "referenceAllele": "C",
          "start": 1996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NR_120640.1:n.1997C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1283,
          "referenceAllele": "C",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XM_006713702.1:c.1003C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713765.1:p.Arg335Cys",
        "hgvsWellDefined": "XP_006713765.1:p.Arg335Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2029,
          "referenceAllele": "C",
          "start": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XM_011512992.1:c.1216C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511294.1:p.Arg406Cys",
        "hgvsWellDefined": "XP_011511294.1:p.Arg406Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1477,
          "referenceAllele": "C",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XM_011512993.1:c.1330C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511295.1:p.Arg444Cys",
        "hgvsWellDefined": "XP_011511295.1:p.Arg444Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080248"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1477,
          "referenceAllele": "C",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_241502.2:n.1477C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116060"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1477,
          "referenceAllele": "C",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_924159.1:n.1477C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828125775",
      "coordinates": [
        {
          "allele": "T",
          "end": 1340,
          "referenceAllele": "C",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_001363880.1:c.1003C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350809.1:p.Arg335Cys",
        "hgvsWellDefined": "NP_001350809.1:p.Arg335Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2075,
          "referenceAllele": "C",
          "start": 2074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XM_011512992.2:c.1216C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511294.1:p.Arg406Cys",
        "hgvsWellDefined": "XP_011511294.1:p.Arg406Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1453,
          "referenceAllele": "C",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_001740207.2:n.1453C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590430"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1453,
          "referenceAllele": "C",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_001740208.2:n.1453C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1423,
          "referenceAllele": "C",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_001740209.2:n.1423C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1283,
          "referenceAllele": "C",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_001740210.1:n.1283C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590433"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1453,
          "referenceAllele": "C",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_002959553.1:n.1453C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1453,
          "referenceAllele": "C",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_002959554.1:n.1453C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1423,
          "referenceAllele": "C",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_241502.3:n.1423C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645416282",
      "coordinates": [
        {
          "allele": "T",
          "end": 1386,
          "referenceAllele": "C",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_020166.5:c.1330C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_064551.3:p.Arg444Cys",
        "hgvsWellDefined": "NP_064551.3:p.Arg444Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669908",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265594.9:c.1330C>T"
          },
          "RefSeq": {
            "hgvs": "NM_020166.5:c.1330C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265594.4:p.Arg444Cys"
          },
          "RefSeq": {
            "hgvs": "NP_064551.3:p.Arg444Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826831445",
      "coordinates": [
        {
          "allele": "T",
          "end": 1127,
          "referenceAllele": "C",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_001293273.2:c.979C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280202.1:p.Arg327Cys",
        "hgvsWellDefined": "NP_001280202.1:p.Arg327Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1153,
          "referenceAllele": "C",
          "start": 1152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NR_120639.2:n.1153C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1997,
          "referenceAllele": "C",
          "start": 1996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NR_120640.2:n.1997C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730742"
    }
  ],
  "type": "nucleotide"
}