{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA13749079",
  "communityStandardTitle": [
    "NM_014730.4(MLEC):c.236-2968C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1215828[alleleid]",
        "alleleId": 1215828,
        "preferredName": "NM_014730.4(MLEC):c.236-2968C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1227142",
        "RCV": [
          "RCV001609016"
        ],
        "variationId": 1227142
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.121128926C>T?assembly=hg19",
        "id": "chr12:g.121128926C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.120691123C>T?assembly=hg38",
        "id": "chr12:g.120691123C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10431386",
        "rs": 10431386
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-121128926-C-T?dataset=gnomad_r2_1",
        "id": "12-121128926-C-T",
        "variant": "12:121128926 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-120691123-C-T?dataset=gnomad_r3",
        "id": "12-120691123-C-T",
        "variant": "12:120691123 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-120691123-C-T?dataset=gnomad_r4",
        "id": "12-120691123-C-T",
        "variant": "12:120691123 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 120691123,
          "referenceAllele": "C",
          "start": 120691122
        }
      ],
      "hgvs": [
        "NC_000012.12:g.120691123C>T",
        "CM000674.2:g.120691123C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 121128926,
          "referenceAllele": "C",
          "start": 121128925
        }
      ],
      "hgvs": [
        "NC_000012.11:g.121128926C>T",
        "CM000674.1:g.121128926C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 119613309,
          "referenceAllele": "C",
          "start": 119613308
        }
      ],
      "hgvs": [
        "NC_000012.10:g.119613309C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 383,
          "endIntronDirection": "-",
          "endIntronOffset": 2967,
          "referenceAllele": "C",
          "start": 383,
          "startIntronDirection": "-",
          "startIntronOffset": 2968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028973",
      "geneNCBI_id": 9761,
      "geneSymbol": "MLEC",
      "hgvs": [
        "ENST00000228506.8:c.236-2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228506.3:n.236-2968C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740749",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228506.8:c.236-2968C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014730.4:c.236-2968C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228506.3:n.236-2968C>T"
          },
          "RefSeq": {
            "hgvs": "NP_055545.1:n.236-2968C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 663,
          "endIntronDirection": "-",
          "endIntronOffset": 2967,
          "referenceAllele": "C",
          "start": 663,
          "startIntronDirection": "-",
          "startIntronOffset": 2968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028973",
      "geneNCBI_id": 9761,
      "geneSymbol": "MLEC",
      "hgvs": [
        "ENST00000228506.7:c.236-2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228506.3:n.236-2968C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248628"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 287,
          "endIntronDirection": "-",
          "endIntronOffset": 2967,
          "referenceAllele": "C",
          "start": 287,
          "startIntronDirection": "-",
          "startIntronOffset": 2968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028973",
      "geneNCBI_id": 9761,
      "geneSymbol": "MLEC",
      "hgvs": [
        "ENST00000412616.2:c.236-2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440746.1:n.236-2968C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 125,
          "endIntronDirection": "+",
          "endIntronOffset": 2689,
          "referenceAllele": "C",
          "start": 125,
          "startIntronDirection": "+",
          "startIntronOffset": 2688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028973",
      "geneNCBI_id": 9761,
      "geneSymbol": "MLEC",
      "hgvs": [
        "NM_001303627.1:c.-15+2689C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290556.1:n.-15+2689C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025605"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 408,
          "endIntronDirection": "-",
          "endIntronOffset": 2967,
          "referenceAllele": "C",
          "start": 408,
          "startIntronDirection": "-",
          "startIntronOffset": 2968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028973",
      "geneNCBI_id": 9761,
      "geneSymbol": "MLEC",
      "hgvs": [
        "NM_001303628.1:c.236-2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290557.1:n.236-2968C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025606"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 408,
          "endIntronDirection": "-",
          "endIntronOffset": 2967,
          "referenceAllele": "C",
          "start": 408,
          "startIntronDirection": "-",
          "startIntronOffset": 2968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028973",
      "geneNCBI_id": 9761,
      "geneSymbol": "MLEC",
      "hgvs": [
        "NM_014730.3:c.236-2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055545.1:n.236-2968C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2818,
          "referenceAllele": "C",
          "start": 2817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028973",
      "geneNCBI_id": 9761,
      "geneSymbol": "MLEC",
      "hgvs": [
        "XM_011539031.1:c.-2020C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537333.1:n.-2020C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2818,
          "referenceAllele": "C",
          "start": 2817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028973",
      "geneNCBI_id": 9761,
      "geneSymbol": "MLEC",
      "hgvs": [
        "XM_011539032.1:c.-1708C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537334.1:n.-1708C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2818,
          "referenceAllele": "C",
          "start": 2817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028973",
      "geneNCBI_id": 9761,
      "geneSymbol": "MLEC",
      "hgvs": [
        "XM_011539033.1:c.-1117C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537335.1:n.-1117C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105985"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2459,
          "endIntronDirection": "+",
          "endIntronOffset": 359,
          "referenceAllele": "C",
          "start": 2459,
          "startIntronDirection": "+",
          "startIntronOffset": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028973",
      "geneNCBI_id": 9761,
      "geneSymbol": "MLEC",
      "hgvs": [
        "XM_011539034.1:c.-648+359C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537336.1:n.-648+359C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105986"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 383,
          "endIntronDirection": "-",
          "endIntronOffset": 2967,
          "referenceAllele": "C",
          "start": 383,
          "startIntronDirection": "-",
          "startIntronOffset": 2968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028973",
      "geneNCBI_id": 9761,
      "geneSymbol": "MLEC",
      "hgvs": [
        "NM_014730.4:c.236-2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055545.1:n.236-2968C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668473",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228506.8:c.236-2968C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014730.4:c.236-2968C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228506.3:n.236-2968C>T"
          },
          "RefSeq": {
            "hgvs": "NP_055545.1:n.236-2968C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 383,
          "endIntronDirection": "-",
          "endIntronOffset": 2967,
          "referenceAllele": "C",
          "start": 383,
          "startIntronDirection": "-",
          "startIntronOffset": 2968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028973",
      "geneNCBI_id": 9761,
      "geneSymbol": "MLEC",
      "hgvs": [
        "NM_001303628.2:c.236-2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290557.1:n.236-2968C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683632"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 125,
          "endIntronDirection": "+",
          "endIntronOffset": 2689,
          "referenceAllele": "C",
          "start": 125,
          "startIntronDirection": "+",
          "startIntronOffset": 2688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028973",
      "geneNCBI_id": 9761,
      "geneSymbol": "MLEC",
      "hgvs": [
        "NM_001303627.2:c.-15+2689C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290556.1:n.-15+2689C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717068"
    }
  ],
  "type": "nucleotide"
}