{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1107981949",
  "communityStandardTitle": [
    "NM_001195278.2(TMEM178B):c.383-24070C>T"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/16882396",
        "rs": 16882396
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-141188521-C-T?dataset=gnomad_r3",
        "id": "7-141188521-C-T",
        "variant": "7:141188521 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-141188521-C-T?dataset=gnomad_r4",
        "id": "7-141188521-C-T",
        "variant": "7:141188521 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 141188521,
          "referenceAllele": "C",
          "start": 141188520
        }
      ],
      "hgvs": [
        "NC_000007.14:g.141188521C>T",
        "CM000669.2:g.141188521C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 140888321,
          "referenceAllele": "C",
          "start": 140888320
        }
      ],
      "hgvs": [
        "NC_000007.13:g.140888321C>T",
        "CM000669.1:g.140888321C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 140534790,
          "referenceAllele": "C",
          "start": 140534789
        }
      ],
      "hgvs": [
        "NC_000007.12:g.140534790C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 629,
          "endIntronDirection": "-",
          "endIntronOffset": 24069,
          "referenceAllele": "C",
          "start": 629,
          "startIntronDirection": "-",
          "startIntronOffset": 24070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044112",
      "geneNCBI_id": 100507421,
      "geneSymbol": "TMEM178B",
      "hgvs": [
        "ENST00000565468.6:c.383-24070C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456594.1:n.383-24070C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760468",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000565468.6:c.383-24070C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001195278.2:c.383-24070C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000456594.1:n.383-24070C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001182207.1:n.383-24070C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 300,
          "endIntronDirection": "-",
          "endIntronOffset": 24069,
          "referenceAllele": "C",
          "start": 300,
          "startIntronDirection": "-",
          "startIntronOffset": 24070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044112",
      "geneNCBI_id": 100507421,
      "geneSymbol": "TMEM178B",
      "hgvs": [
        "ENST00000563442.1:n.301-24070C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 461,
          "endIntronDirection": "-",
          "endIntronOffset": 24069,
          "referenceAllele": "C",
          "start": 461,
          "startIntronDirection": "-",
          "startIntronOffset": 24070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044112",
      "geneNCBI_id": 100507421,
      "geneSymbol": "TMEM178B",
      "hgvs": [
        "ENST00000565468.5:c.383-24070C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456594.1:n.383-24070C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378778"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 461,
          "endIntronDirection": "-",
          "endIntronOffset": 24069,
          "referenceAllele": "C",
          "start": 461,
          "startIntronDirection": "-",
          "startIntronOffset": 24070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044112",
      "geneNCBI_id": 100507421,
      "geneSymbol": "TMEM178B",
      "hgvs": [
        "ENST00000610315.1:c.383-24070C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484025.1:n.383-24070C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 461,
          "endIntronDirection": "-",
          "endIntronOffset": 24069,
          "referenceAllele": "C",
          "start": 461,
          "startIntronDirection": "-",
          "startIntronOffset": 24070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044112",
      "geneNCBI_id": 100507421,
      "geneSymbol": "TMEM178B",
      "hgvs": [
        "NM_001195278.1:c.383-24070C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182207.1:n.383-24070C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016578"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1382,
          "endIntronDirection": "-",
          "endIntronOffset": 24069,
          "referenceAllele": "C",
          "start": 1382,
          "startIntronDirection": "-",
          "startIntronOffset": 24070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044112",
      "geneNCBI_id": 100507421,
      "geneSymbol": "TMEM178B",
      "hgvs": [
        "XM_011515705.1:c.383-24070C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514007.1:n.383-24070C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082924"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1382,
          "endIntronDirection": "-",
          "endIntronOffset": 24069,
          "referenceAllele": "C",
          "start": 1382,
          "startIntronDirection": "-",
          "startIntronOffset": 24070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044112",
      "geneNCBI_id": 100507421,
      "geneSymbol": "TMEM178B",
      "hgvs": [
        "XR_927317.1:n.1383-24070C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1291,
          "endIntronDirection": "-",
          "endIntronOffset": 24069,
          "referenceAllele": "C",
          "start": 1291,
          "startIntronDirection": "-",
          "startIntronOffset": 24070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044112",
      "geneNCBI_id": 100507421,
      "geneSymbol": "TMEM178B",
      "hgvs": [
        "XM_011515705.2:c.383-24070C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514007.1:n.383-24070C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543844"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1285,
          "endIntronDirection": "-",
          "endIntronOffset": 24069,
          "referenceAllele": "C",
          "start": 1285,
          "startIntronDirection": "-",
          "startIntronOffset": 24070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044112",
      "geneNCBI_id": 100507421,
      "geneSymbol": "TMEM178B",
      "hgvs": [
        "XM_017011636.1:c.383-24070C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867125.1:n.383-24070C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1285,
          "endIntronDirection": "-",
          "endIntronOffset": 24069,
          "referenceAllele": "C",
          "start": 1285,
          "startIntronDirection": "-",
          "startIntronOffset": 24070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044112",
      "geneNCBI_id": 100507421,
      "geneSymbol": "TMEM178B",
      "hgvs": [
        "XR_001744505.1:n.1286-24070C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 629,
          "endIntronDirection": "-",
          "endIntronOffset": 24069,
          "referenceAllele": "C",
          "start": 629,
          "startIntronDirection": "-",
          "startIntronOffset": 24070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN044112",
      "geneNCBI_id": 100507421,
      "geneSymbol": "TMEM178B",
      "hgvs": [
        "NM_001195278.2:c.383-24070C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182207.1:n.383-24070C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663970",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000565468.6:c.383-24070C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001195278.2:c.383-24070C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000456594.1:n.383-24070C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001182207.1:n.383-24070C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}