{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2339831639",
  "communityStandardTitle": [
    "NM_001364171.2(ODAD1):c.988+5G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060500990",
        "rs": 1060500990
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 48303645,
          "referenceAllele": "C",
          "start": 48303644
        }
      ],
      "hgvs": [
        "NC_000019.10:g.48303645C=",
        "CM000681.2:g.48303645C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 48806902,
          "referenceAllele": "C",
          "start": 48806901
        }
      ],
      "hgvs": [
        "NC_000019.9:g.48806902C=",
        "CM000681.1:g.48806902C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 53498714,
          "referenceAllele": "C",
          "start": 53498713
        }
      ],
      "hgvs": [
        "NC_000019.8:g.53498714C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21431,
          "referenceAllele": "G",
          "start": 21430
        }
      ],
      "hgvs": [
        "NG_033251.1:g.21431G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005492"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1264,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1264,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "ENST00000474199.6:c.988+5G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501357.1:n.988+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757112"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1504,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1504,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "ENST00000674207.1:c.*696+5G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501374.1:n.*696+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774215"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1345,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1345,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "ENST00000674294.1:c.988+5G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501363.1:n.988+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774285",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674294.1:c.988+5G="
          },
          "RefSeq": {
            "hgvs": "NM_001364171.2:c.988+5G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501363.1:n.988+5G="
          },
          "RefSeq": {
            "hgvs": "NP_001351100.1:n.988+5G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1560,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1560,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "ENST00000315396.7:c.877+5G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000318429.7:n.877+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257079"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1005,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1005,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "ENST00000474199.5:n.1005+5G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315760"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1560,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1560,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "NM_144577.3:c.877+5G="
      ],
      "proteinEffect": {
        "hgvs": "NP_653178.3:n.877+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1268,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1268,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_005259413.2:c.988+5G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005259470.1:n.988+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062426"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1264,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1264,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_005259414.2:c.988+5G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005259471.1:n.988+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062427"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1282,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1282,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_005259415.2:c.988+5G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005259472.1:n.988+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062428"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 411,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 411,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_005259416.3:c.304+5G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005259473.1:n.304+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062429"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2213,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2213,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_011527515.1:c.877+5G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525817.1:n.877+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094609"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1048,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1048,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_011527516.1:c.877+5G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525818.1:n.877+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094610"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1264,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1264,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_011527517.1:c.988+5G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525819.1:n.988+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1264,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1264,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_011527518.1:c.988+5G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525820.1:n.988+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094612"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1345,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1345,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "NM_001364171.1:c.988+5G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001351100.1:n.988+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523742"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 984,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 984,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "NM_144577.4:c.877+5G="
      ],
      "proteinEffect": {
        "hgvs": "NP_653178.3:n.877+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526556"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1264,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1264,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_005259414.3:c.988+5G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005259471.1:n.988+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1282,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1282,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_005259415.3:c.988+5G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005259472.1:n.988+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 415,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 415,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_005259416.4:c.304+5G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005259473.1:n.304+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2211,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2211,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_011527515.2:c.877+5G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525817.1:n.877+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548710"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1001,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1001,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_011527516.2:c.877+5G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525818.1:n.877+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548711"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2041,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2041,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_017027483.1:c.712+5G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016882972.1:n.712+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577423"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1361,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1361,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_024451782.1:c.1027+5G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024307550.1:n.1027+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585291"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2084,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2084,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_024451783.1:c.988+5G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024307551.1:n.988+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585292"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1345,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1345,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "NM_001364171.2:c.988+5G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001351100.1:n.988+5G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690824",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674294.1:c.988+5G="
          },
          "RefSeq": {
            "hgvs": "NM_001364171.2:c.988+5G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501363.1:n.988+5G="
          },
          "RefSeq": {
            "hgvs": "NP_001351100.1:n.988+5G="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}