{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2018047825",
  "communityStandardTitle": [
    "NM_001080396.3(NALF1):c.916-217120G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1830756",
        "rs": 1830756
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 107427875,
          "referenceAllele": "C",
          "start": 107427874
        }
      ],
      "hgvs": [
        "NC_000013.11:g.107427875C=",
        "CM000675.2:g.107427875C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 108080223,
          "referenceAllele": "C",
          "start": 108080222
        }
      ],
      "hgvs": [
        "NC_000013.10:g.108080223C=",
        "CM000675.1:g.108080223C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 106878224,
          "referenceAllele": "C",
          "start": 106878223
        }
      ],
      "hgvs": [
        "NC_000013.9:g.106878224C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1815,
          "endIntronDirection": "-",
          "endIntronOffset": 217119,
          "referenceAllele": "G",
          "start": 1815,
          "startIntronDirection": "-",
          "startIntronOffset": 217120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033877",
      "geneNCBI_id": 728215,
      "geneSymbol": "NALF1",
      "hgvs": [
        "ENST00000375915.4:c.916-217120G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365080.1:n.916-217120G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751690",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375915.4:c.916-217120G="
          },
          "RefSeq": {
            "hgvs": "NM_001080396.3:c.916-217120G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365080.1:n.916-217120G="
          },
          "RefSeq": {
            "hgvs": "NP_001073865.1:n.916-217120G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1054,
          "endIntronDirection": "-",
          "endIntronOffset": 217119,
          "referenceAllele": "G",
          "start": 1054,
          "startIntronDirection": "-",
          "startIntronOffset": 217120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033877",
      "geneNCBI_id": 728215,
      "geneSymbol": "NALF1",
      "hgvs": [
        "ENST00000375915.3:c.916-217120G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365080.1:n.916-217120G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270934"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1431,
          "endIntronDirection": "-",
          "endIntronOffset": 217119,
          "referenceAllele": "G",
          "start": 1431,
          "startIntronDirection": "-",
          "startIntronOffset": 217120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033877",
      "geneNCBI_id": 728215,
      "geneSymbol": "NALF1",
      "hgvs": [
        "NM_001080396.2:c.916-217120G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073865.1:n.916-217120G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010165"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1574,
          "endIntronDirection": "-",
          "endIntronOffset": 217119,
          "referenceAllele": "G",
          "start": 1574,
          "startIntronDirection": "-",
          "startIntronOffset": 217120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033877",
      "geneNCBI_id": 728215,
      "geneSymbol": "NALF1",
      "hgvs": [
        "XM_011521109.1:c.916-217120G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519411.1:n.916-217120G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088273"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1585,
          "endIntronDirection": "-",
          "endIntronOffset": 217119,
          "referenceAllele": "G",
          "start": 1585,
          "startIntronDirection": "-",
          "startIntronOffset": 217120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033877",
      "geneNCBI_id": 728215,
      "geneSymbol": "NALF1",
      "hgvs": [
        "XM_011521109.3:c.916-217120G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519411.1:n.916-217120G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545996"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1815,
          "endIntronDirection": "-",
          "endIntronOffset": 217119,
          "referenceAllele": "G",
          "start": 1815,
          "startIntronDirection": "-",
          "startIntronOffset": 217120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033877",
      "geneNCBI_id": 728215,
      "geneSymbol": "NALF1",
      "hgvs": [
        "NM_001080396.3:c.916-217120G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073865.1:n.916-217120G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676248",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375915.4:c.916-217120G="
          },
          "RefSeq": {
            "hgvs": "NM_001080396.3:c.916-217120G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365080.1:n.916-217120G="
          },
          "RefSeq": {
            "hgvs": "NP_001073865.1:n.916-217120G="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}