{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10458480",
  "communityStandardTitle": [
    "NM_001367916.1(MAGT1):c.673-16T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1159889[alleleid]",
        "alleleId": 1159889,
        "preferredName": "NM_001367916.1(MAGT1):c.673-16T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1165909",
        "RCV": [
          "RCV001513482",
          "RCV001712919"
        ],
        "variationId": 1165909
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-77111103-A-G",
        "id": "X-77111103-A-G",
        "variant": "X:77111103 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77111103A>G?assembly=hg19",
        "id": "chrX:g.77111103A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77855606A>G?assembly=hg38",
        "id": "chrX:g.77855606A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/140957691",
        "rs": 140957691
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77111103-A-G?dataset=gnomad_r2_1",
        "id": "X-77111103-A-G",
        "variant": "X:77111103 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77855606-A-G?dataset=gnomad_r3",
        "id": "X-77855606-A-G",
        "variant": "X:77855606 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77855606-A-G?dataset=gnomad_r4",
        "id": "X-77855606-A-G",
        "variant": "X:77855606 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 77855606,
          "referenceAllele": "A",
          "start": 77855605
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77855606A>G",
        "CM000685.2:g.77855606A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 77111103,
          "referenceAllele": "A",
          "start": 77111102
        }
      ],
      "hgvs": [
        "NC_000023.10:g.77111103A>G",
        "CM000685.1:g.77111103A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 76997759,
          "referenceAllele": "A",
          "start": 76997758
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76997759A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 44963,
          "referenceAllele": "T",
          "start": 44962
        }
      ],
      "hgvs": [
        "NG_016390.1:g.44963T>C",
        "LRG_353:g.44963T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003150"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 855,
          "endIntronDirection": "-",
          "endIntronOffset": 15,
          "referenceAllele": "T",
          "start": 855,
          "startIntronDirection": "-",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028880",
      "geneNCBI_id": 84061,
      "geneSymbol": "MAGT1",
      "hgvs": [
        "ENST00000358075.11:c.673-16T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354649.6:n.673-16T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824120"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 699,
          "endIntronDirection": "-",
          "endIntronOffset": 15,
          "referenceAllele": "T",
          "start": 699,
          "startIntronDirection": "-",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028880",
      "geneNCBI_id": 84061,
      "geneSymbol": "MAGT1",
      "hgvs": [
        "ENST00000685002.1:n.700-16T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829836"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 699,
          "endIntronDirection": "-",
          "endIntronOffset": 15,
          "referenceAllele": "T",
          "start": 699,
          "startIntronDirection": "-",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028880",
      "geneNCBI_id": 84061,
      "geneSymbol": "MAGT1",
      "hgvs": [
        "ENST00000685015.1:c.673-16T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509969.1:n.673-16T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829844"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 699,
          "endIntronDirection": "+",
          "endIntronOffset": 1127,
          "referenceAllele": "T",
          "start": 699,
          "startIntronDirection": "+",
          "startIntronOffset": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028880",
      "geneNCBI_id": 84061,
      "geneSymbol": "MAGT1",
      "hgvs": [
        "ENST00000685353.1:c.672+1127T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510266.1:n.672+1127T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830026"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 699,
          "endIntronDirection": "+",
          "endIntronOffset": 1127,
          "referenceAllele": "T",
          "start": 699,
          "startIntronDirection": "+",
          "startIntronOffset": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028880",
      "geneNCBI_id": 84061,
      "geneSymbol": "MAGT1",
      "hgvs": [
        "ENST00000688650.1:c.672+1127T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509785.1:n.672+1127T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831743"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 662,
          "endIntronDirection": "-",
          "endIntronOffset": 15,
          "referenceAllele": "T",
          "start": 662,
          "startIntronDirection": "-",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028880",
      "geneNCBI_id": 84061,
      "geneSymbol": "MAGT1",
      "hgvs": [
        "ENST00000689137.1:c.571-16T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509458.1:n.571-16T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 699,
          "endIntronDirection": "-",
          "endIntronOffset": 15,
          "referenceAllele": "T",
          "start": 699,
          "startIntronDirection": "-",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028880",
      "geneNCBI_id": 84061,
      "geneSymbol": "MAGT1",
      "hgvs": [
        "ENST00000689519.1:c.673-16T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509887.1:n.673-16T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 834,
          "endIntronDirection": "-",
          "endIntronOffset": 15,
          "referenceAllele": "T",
          "start": 834,
          "startIntronDirection": "-",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028880",
      "geneNCBI_id": 84061,
      "geneSymbol": "MAGT1",
      "hgvs": [
        "ENST00000691172.1:c.571-16T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508529.1:n.571-16T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833082"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 828,
          "endIntronDirection": "-",
          "endIntronOffset": 15,
          "referenceAllele": "T",
          "start": 828,
          "startIntronDirection": "-",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028880",
      "geneNCBI_id": 84061,
      "geneSymbol": "MAGT1",
      "hgvs": [
        "ENST00000691993.1:c.769-16T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509067.1:n.769-16T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833483"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 428,
          "endIntronDirection": "-",
          "endIntronOffset": 15,
          "referenceAllele": "T",
          "start": 428,
          "startIntronDirection": "-",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028880",
      "geneNCBI_id": 84061,
      "geneSymbol": "MAGT1",
      "hgvs": [
        "ENST00000692161.1:c.391-16T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509676.1:n.391-16T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833572"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 697,
          "endIntronDirection": "-",
          "endIntronOffset": 15,
          "referenceAllele": "T",
          "start": 697,
          "startIntronDirection": "-",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028880",
      "geneNCBI_id": 84061,
      "geneSymbol": "MAGT1",
      "hgvs": [
        "ENST00000618282.5:c.673-16T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480732.1:n.673-16T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762170",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000618282.5:c.673-16T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001367916.1:c.673-16T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000480732.1:n.673-16T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001354845.1:n.673-16T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 855,
          "endIntronDirection": "-",
          "endIntronOffset": 15,
          "referenceAllele": "T",
          "start": 855,
          "startIntronDirection": "-",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028880",
      "geneNCBI_id": 84061,
      "geneSymbol": "MAGT1",
      "hgvs": [
        "ENST00000358075.10:c.769-16T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354649.5:n.769-16T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264325"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 830,
          "endIntronDirection": "-",
          "endIntronOffset": 15,
          "referenceAllele": "T",
          "start": 830,
          "startIntronDirection": "-",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028880",
      "geneNCBI_id": 84061,
      "geneSymbol": "MAGT1",
      "hgvs": [
        "ENST00000610432.4:c.769-16T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478379.1:n.769-16T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400419"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 693,
          "endIntronDirection": "-",
          "endIntronOffset": 15,
          "referenceAllele": "T",
          "start": 693,
          "startIntronDirection": "-",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028880",
      "geneNCBI_id": 84061,
      "geneSymbol": "MAGT1",
      "hgvs": [
        "ENST00000618282.4:c.673-16T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480732.1:n.673-16T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403868"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 830,
          "endIntronDirection": "-",
          "endIntronOffset": 15,
          "referenceAllele": "T",
          "start": 830,
          "startIntronDirection": "-",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028880",
      "geneNCBI_id": 84061,
      "geneSymbol": "MAGT1",
      "hgvs": [
        "NM_032121.5:c.769-16T>C",
        "LRG_353t1:c.769-16T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_115497.4:n.769-16T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038852"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 697,
          "endIntronDirection": "-",
          "endIntronOffset": 15,
          "referenceAllele": "T",
          "start": 697,
          "startIntronDirection": "-",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028880",
      "geneNCBI_id": 84061,
      "geneSymbol": "MAGT1",
      "hgvs": [
        "NM_001367916.1:c.673-16T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354845.1:n.673-16T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664929",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000618282.5:c.673-16T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001367916.1:c.673-16T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000480732.1:n.673-16T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001354845.1:n.673-16T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}