{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA355317419",
  "communityStandardTitle": [
    "NM_020166.5(MCCC1):c.1731+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2069270[alleleid]",
        "alleleId": 2069270,
        "preferredName": "NM_020166.5(MCCC1):c.1731+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2019034",
        "RCV": [
          "RCV002846799"
        ],
        "variationId": 2019034
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.182743542C>T?assembly=hg19",
        "id": "chr3:g.182743542C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.183025754C>T?assembly=hg38",
        "id": "chr3:g.183025754C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2108446715",
        "rs": 2108446715
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 183025754,
          "referenceAllele": "C",
          "start": 183025753
        }
      ],
      "hgvs": [
        "NC_000003.12:g.183025754C>T",
        "CM000665.2:g.183025754C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 182743542,
          "referenceAllele": "C",
          "start": 182743541
        }
      ],
      "hgvs": [
        "NC_000003.11:g.182743542C>T",
        "CM000665.1:g.182743542C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 184226236,
          "referenceAllele": "C",
          "start": 184226235
        }
      ],
      "hgvs": [
        "NC_000003.10:g.184226236C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 78824,
          "referenceAllele": "G",
          "start": 78823
        }
      ],
      "hgvs": [
        "NG_008100.1:g.78824G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000845"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1787,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1787,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000265594.9:c.1731+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265594.4:n.1731+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742855",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265594.9:c.1731+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020166.5:c.1731+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265594.4:n.1731+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_064551.3:n.1731+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1878,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1878,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000265594.8:c.1731+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265594.4:n.1731+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251776"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1700,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1700,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000476176.5:c.1590+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420433.1:n.1590+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317298"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 372,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000489909.1:n.372+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2107,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2107,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000492597.5:c.1404+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419898.1:n.1404+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329943"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1526,
          "endIntronDirection": "-",
          "endIntronOffset": 3199,
          "referenceAllele": "G",
          "start": 1526,
          "startIntronDirection": "-",
          "startIntronOffset": 3200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000495767.5:c.*1263-3200G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419658.1:n.*1263-3200G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1562,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1562,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000497830.5:c.*1328+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420088.1:n.*1328+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333972"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2278,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2278,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000497959.5:c.*192+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420648.1:n.*192+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334071"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1491,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1491,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000539926.5:c.1281+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441253.2:n.1281+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362129"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1745,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1745,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000610757.4:c.1281+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480435.1:n.1281+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400560"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1651,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1651,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000629669.2:c.*95+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486824.1:n.*95+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407257"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1619,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1619,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_001293273.1:c.1380+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280202.1:n.1380+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024520"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1878,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1878,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_020166.4:c.1731+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_064551.3:n.1731+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1595,
          "endIntronDirection": "-",
          "endIntronOffset": 3199,
          "referenceAllele": "G",
          "start": 1595,
          "startIntronDirection": "-",
          "startIntronOffset": 3200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NR_120639.1:n.1596-3200G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2278,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2278,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NR_120640.1:n.2278+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1684,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1684,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XM_006713702.1:c.1404+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713765.1:n.1404+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070312"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2430,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2430,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XM_011512992.1:c.1617+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511294.1:n.1617+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080247"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1661,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1661,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_241502.2:n.1661+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116060"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1975,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1975,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_924159.1:n.1975+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1741,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1741,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_001363880.1:c.1404+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350809.1:n.1404+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2476,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2476,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XM_011512992.2:c.1617+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511294.1:n.1617+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1951,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1951,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_001740207.2:n.1951+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590430"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1804,
          "endIntronDirection": "-",
          "endIntronOffset": 3199,
          "referenceAllele": "G",
          "start": 1804,
          "startIntronDirection": "-",
          "startIntronOffset": 3200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_001740208.2:n.1805-3200G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590431"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1557,
          "endIntronDirection": "-",
          "endIntronOffset": 3199,
          "referenceAllele": "G",
          "start": 1557,
          "startIntronDirection": "-",
          "startIntronOffset": 3200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_001740209.2:n.1558-3200G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590432"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1634,
          "endIntronDirection": "-",
          "endIntronOffset": 3199,
          "referenceAllele": "G",
          "start": 1634,
          "startIntronDirection": "-",
          "startIntronOffset": 3200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_001740210.1:n.1635-3200G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590433"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1607,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1607,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_241502.3:n.1607+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605840"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1787,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1787,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_020166.5:c.1731+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_064551.3:n.1731+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669908",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265594.9:c.1731+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020166.5:c.1731+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265594.4:n.1731+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_064551.3:n.1731+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1528,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1528,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_001293273.2:c.1380+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280202.1:n.1380+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1504,
          "endIntronDirection": "-",
          "endIntronOffset": 3199,
          "referenceAllele": "G",
          "start": 1504,
          "startIntronDirection": "-",
          "startIntronOffset": 3200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NR_120639.2:n.1505-3200G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730741"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2278,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2278,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NR_120640.2:n.2278+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730742"
    }
  ],
  "type": "nucleotide"
}