{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2448039162",
  "communityStandardTitle": [
    "NM_022144.3(TNMD):c.424-825C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4828038",
        "rs": 4828038
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 100596679,
          "referenceAllele": "C",
          "start": 100596678
        }
      ],
      "hgvs": [
        "NC_000023.11:g.100596679C=",
        "CM000685.2:g.100596679C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 99851676,
          "referenceAllele": "C",
          "start": 99851675
        }
      ],
      "hgvs": [
        "NC_000023.10:g.99851676C=",
        "CM000685.1:g.99851676C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 99738332,
          "referenceAllele": "C",
          "start": 99738331
        }
      ],
      "hgvs": [
        "NC_000023.9:g.99738332C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 16887,
          "referenceAllele": "C",
          "start": 16886
        }
      ],
      "hgvs": [
        "NG_013266.1:g.16887C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002767"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 16887,
          "referenceAllele": "C",
          "start": 16886
        }
      ],
      "hgvs": [
        "NG_013266.2:g.16887C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673636"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 506,
          "endIntronDirection": "-",
          "endIntronOffset": 824,
          "referenceAllele": "C",
          "start": 506,
          "startIntronDirection": "-",
          "startIntronOffset": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017757",
      "geneNCBI_id": 64102,
      "geneSymbol": "TNMD",
      "hgvs": [
        "ENST00000373031.5:c.424-825C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362122.4:n.424-825C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751140",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373031.5:c.424-825C="
          },
          "RefSeq": {
            "hgvs": "NM_022144.3:c.424-825C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362122.4:n.424-825C="
          },
          "RefSeq": {
            "hgvs": "NP_071427.2:n.424-825C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 640,
          "endIntronDirection": "-",
          "endIntronOffset": 824,
          "referenceAllele": "C",
          "start": 640,
          "startIntronDirection": "-",
          "startIntronOffset": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017757",
      "geneNCBI_id": 64102,
      "geneSymbol": "TNMD",
      "hgvs": [
        "ENST00000373031.4:c.424-825C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362122.4:n.424-825C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269453"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 514,
          "endIntronDirection": "-",
          "endIntronOffset": 824,
          "referenceAllele": "C",
          "start": 514,
          "startIntronDirection": "-",
          "startIntronOffset": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017757",
      "geneNCBI_id": 64102,
      "geneSymbol": "TNMD",
      "hgvs": [
        "ENST00000485971.1:n.515-825C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324882"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 649,
          "endIntronDirection": "-",
          "endIntronOffset": 824,
          "referenceAllele": "C",
          "start": 649,
          "startIntronDirection": "-",
          "startIntronOffset": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017757",
      "geneNCBI_id": 64102,
      "geneSymbol": "TNMD",
      "hgvs": [
        "NM_022144.2:c.424-825C="
      ],
      "proteinEffect": {
        "hgvs": "NP_071427.2:n.424-825C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037237"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 323,
          "endIntronDirection": "-",
          "endIntronOffset": 824,
          "referenceAllele": "C",
          "start": 323,
          "startIntronDirection": "-",
          "startIntronOffset": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017757",
      "geneNCBI_id": 64102,
      "geneSymbol": "TNMD",
      "hgvs": [
        "XM_005262175.3:c.235-825C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262232.1:n.235-825C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 649,
          "endIntronDirection": "-",
          "endIntronOffset": 824,
          "referenceAllele": "C",
          "start": 649,
          "startIntronDirection": "-",
          "startIntronOffset": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017757",
      "geneNCBI_id": 64102,
      "geneSymbol": "TNMD",
      "hgvs": [
        "XM_005262176.1:c.424-825C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262233.1:n.424-825C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063352"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 350,
          "endIntronDirection": "-",
          "endIntronOffset": 824,
          "referenceAllele": "C",
          "start": 350,
          "startIntronDirection": "-",
          "startIntronOffset": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017757",
      "geneNCBI_id": 64102,
      "geneSymbol": "TNMD",
      "hgvs": [
        "XM_011531008.1:c.235-825C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529310.1:n.235-825C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098049"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 319,
          "endIntronDirection": "-",
          "endIntronOffset": 824,
          "referenceAllele": "C",
          "start": 319,
          "startIntronDirection": "-",
          "startIntronOffset": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017757",
      "geneNCBI_id": 64102,
      "geneSymbol": "TNMD",
      "hgvs": [
        "XM_011531009.1:c.235-825C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529311.1:n.235-825C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098050"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 318,
          "endIntronDirection": "-",
          "endIntronOffset": 824,
          "referenceAllele": "C",
          "start": 318,
          "startIntronDirection": "-",
          "startIntronOffset": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017757",
      "geneNCBI_id": 64102,
      "geneSymbol": "TNMD",
      "hgvs": [
        "XM_011531010.1:c.235-825C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529312.1:n.235-825C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098051"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 506,
          "endIntronDirection": "-",
          "endIntronOffset": 824,
          "referenceAllele": "C",
          "start": 506,
          "startIntronDirection": "-",
          "startIntronOffset": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017757",
      "geneNCBI_id": 64102,
      "geneSymbol": "TNMD",
      "hgvs": [
        "NM_022144.3:c.424-825C="
      ],
      "proteinEffect": {
        "hgvs": "NP_071427.2:n.424-825C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670395",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373031.5:c.424-825C="
          },
          "RefSeq": {
            "hgvs": "NM_022144.3:c.424-825C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362122.4:n.424-825C="
          },
          "RefSeq": {
            "hgvs": "NP_071427.2:n.424-825C="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}