{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA172448",
  "communityStandardTitle": [
    "NM_001278116.2(L1CAM):c.400+9C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=170088[alleleid]",
        "alleleId": 170088,
        "preferredName": "NM_001278116.2(L1CAM):c.400+9C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/158795",
        "RCV": [
          "RCV000146246",
          "RCV002512577"
        ],
        "variationId": 158795
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-153137598-G-A",
        "id": "X-153137598-G-A",
        "variant": "X:153137598 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153137598G>A?assembly=hg19",
        "id": "chrX:g.153137598G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153872143G>A?assembly=hg38",
        "id": "chrX:g.153872143G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201057718",
        "rs": 201057718
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-153137598-G-A?dataset=gnomad_r2_1",
        "id": "X-153137598-G-A",
        "variant": "X:153137598 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-153872143-G-A?dataset=gnomad_r3",
        "id": "X-153872143-G-A",
        "variant": "X:153872143 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-153872143-G-A?dataset=gnomad_r4",
        "id": "X-153872143-G-A",
        "variant": "X:153872143 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 153872143,
          "referenceAllele": "G",
          "start": 153872142
        }
      ],
      "hgvs": [
        "NC_000023.11:g.153872143G>A",
        "CM000685.2:g.153872143G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 153137598,
          "referenceAllele": "G",
          "start": 153137597
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153137598G>A",
        "CM000685.1:g.153137598G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 152790792,
          "referenceAllele": "G",
          "start": 152790791
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152790792G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 42081,
          "referenceAllele": "C",
          "start": 42080
        }
      ],
      "hgvs": [
        "NG_009645.3:g.42081C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001626"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19031,
          "referenceAllele": "C",
          "start": 19030
        }
      ],
      "hgvs": [
        "NG_009645.4:g.19031C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733323"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 617,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 617,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000370060.7:c.400+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359077.1:n.400+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750535",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370060.7:c.400+9C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001278116.2:c.400+9C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359077.1:n.400+9C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001265045.1:n.400+9C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 411,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 411,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000361699.8:c.400+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355380.4:n.400+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 493,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 493,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000361981.7:c.385+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354712.3:n.385+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 583,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 583,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000370055.5:c.385+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359072.1:n.385+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267844"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 590,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 590,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000370060.5:c.400+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359077.1:n.400+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267847"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 603,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 603,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "ENST00000439496.5:c.400+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402407.1:n.400+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295451"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 609,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 609,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_000425.4:c.400+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000416.1:n.400+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006487"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 493,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 493,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_001143963.2:c.385+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137435.1:n.385+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 618,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 618,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_001278116.1:c.400+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265045.1:n.400+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 508,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 508,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_024003.3:c.400+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_076493.1:n.400+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037600"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 578,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 578,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_000425.5:c.400+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000416.1:n.400+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 617,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 617,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006470",
      "geneNCBI_id": 3897,
      "geneSymbol": "L1CAM",
      "hgvs": [
        "NM_001278116.2:c.400+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265045.1:n.400+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681394",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370060.7:c.400+9C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001278116.2:c.400+9C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359077.1:n.400+9C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001265045.1:n.400+9C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}