{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA13238700",
  "communityStandardTitle": [
    "NM_178815.5(ARL5B):c.46+1943T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.18950555T>C?assembly=hg19",
        "id": "chr10:g.18950555T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.18661626T>C?assembly=hg38",
        "id": "chr10:g.18661626T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10829156",
        "rs": 10829156
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-18950555-T-C?dataset=gnomad_r2_1",
        "id": "10-18950555-T-C",
        "variant": "10:18950555 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-18661626-T-C?dataset=gnomad_r3",
        "id": "10-18661626-T-C",
        "variant": "10:18661626 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-18661626-T-C?dataset=gnomad_r4",
        "id": "10-18661626-T-C",
        "variant": "10:18661626 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 18661626,
          "referenceAllele": "T",
          "start": 18661625
        }
      ],
      "hgvs": [
        "NC_000010.11:g.18661626T>C",
        "CM000672.2:g.18661626T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 18950555,
          "referenceAllele": "T",
          "start": 18950554
        }
      ],
      "hgvs": [
        "NC_000010.10:g.18950555T>C",
        "CM000672.1:g.18950555T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 18990561,
          "referenceAllele": "T",
          "start": 18990560
        }
      ],
      "hgvs": [
        "NC_000010.9:g.18990561T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 253,
          "endIntronDirection": "+",
          "endIntronOffset": 1943,
          "referenceAllele": "T",
          "start": 253,
          "startIntronDirection": "+",
          "startIntronOffset": 1942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023052",
      "geneNCBI_id": 221079,
      "geneSymbol": "ARL5B",
      "hgvs": [
        "ENST00000377275.4:c.46+1943T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366487.3:n.46+1943T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751894",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377275.4:c.46+1943T>C"
          },
          "RefSeq": {
            "hgvs": "NM_178815.5:c.46+1943T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366487.3:n.46+1943T>C"
          },
          "RefSeq": {
            "hgvs": "NP_848930.1:n.46+1943T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 279,
          "endIntronDirection": "+",
          "endIntronOffset": 1943,
          "referenceAllele": "T",
          "start": 279,
          "startIntronDirection": "+",
          "startIntronOffset": 1942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023052",
      "geneNCBI_id": 221079,
      "geneSymbol": "ARL5B",
      "hgvs": [
        "ENST00000377275.3:c.46+1943T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366487.3:n.46+1943T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271537"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 300,
          "endIntronDirection": "+",
          "endIntronOffset": 1943,
          "referenceAllele": "T",
          "start": 300,
          "startIntronDirection": "+",
          "startIntronOffset": 1942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023052",
      "geneNCBI_id": 221079,
      "geneSymbol": "ARL5B",
      "hgvs": [
        "NM_178815.3:c.46+1943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_848930.1:n.46+1943T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043610"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 349,
          "endIntronDirection": "+",
          "endIntronOffset": 1943,
          "referenceAllele": "T",
          "start": 349,
          "startIntronDirection": "+",
          "startIntronOffset": 1942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023052",
      "geneNCBI_id": 221079,
      "geneSymbol": "ARL5B",
      "hgvs": [
        "XM_005252400.1:c.46+1943T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252457.1:n.46+1943T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059933"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 116,
          "endIntronDirection": "+",
          "endIntronOffset": 1734,
          "referenceAllele": "T",
          "start": 116,
          "startIntronDirection": "+",
          "startIntronOffset": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023052",
      "geneNCBI_id": 221079,
      "geneSymbol": "ARL5B",
      "hgvs": [
        "XM_005252401.3:c.-66+1734T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252458.1:n.-66+1734T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059934"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 349,
          "endIntronDirection": "+",
          "endIntronOffset": 1943,
          "referenceAllele": "T",
          "start": 349,
          "startIntronDirection": "+",
          "startIntronOffset": 1942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023052",
      "geneNCBI_id": 221079,
      "geneSymbol": "ARL5B",
      "hgvs": [
        "NM_178815.4:c.46+1943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_848930.1:n.46+1943T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526852"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 165,
          "endIntronDirection": "+",
          "endIntronOffset": 1734,
          "referenceAllele": "T",
          "start": 165,
          "startIntronDirection": "+",
          "startIntronOffset": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023052",
      "geneNCBI_id": 221079,
      "geneSymbol": "ARL5B",
      "hgvs": [
        "XM_005252401.4:c.-66+1734T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252458.1:n.-66+1734T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533796"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 253,
          "endIntronDirection": "+",
          "endIntronOffset": 1943,
          "referenceAllele": "T",
          "start": 253,
          "startIntronDirection": "+",
          "startIntronOffset": 1942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023052",
      "geneNCBI_id": 221079,
      "geneSymbol": "ARL5B",
      "hgvs": [
        "NM_178815.5:c.46+1943T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_848930.1:n.46+1943T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672890",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377275.4:c.46+1943T>C"
          },
          "RefSeq": {
            "hgvs": "NM_178815.5:c.46+1943T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366487.3:n.46+1943T>C"
          },
          "RefSeq": {
            "hgvs": "NP_848930.1:n.46+1943T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}