{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10910563",
  "communityStandardTitle": [
    "NM_002293.4(LAMC1):c.1021+1405A>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.183081194A>C?assembly=hg19",
        "id": "chr1:g.183081194A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.183112059A>C?assembly=hg38",
        "id": "chr1:g.183112059A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10911251",
        "rs": 10911251
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-183081194-A-C?dataset=gnomad_r2_1",
        "id": "1-183081194-A-C",
        "variant": "1:183081194 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-183112059-A-C?dataset=gnomad_r3",
        "id": "1-183112059-A-C",
        "variant": "1:183112059 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-183112059-A-C?dataset=gnomad_r4",
        "id": "1-183112059-A-C",
        "variant": "1:183112059 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 183112059,
          "referenceAllele": "A",
          "start": 183112058
        }
      ],
      "hgvs": [
        "NC_000001.11:g.183112059A>C",
        "CM000663.2:g.183112059A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 183081194,
          "referenceAllele": "A",
          "start": 183081193
        }
      ],
      "hgvs": [
        "NC_000001.10:g.183081194A>C",
        "CM000663.1:g.183081194A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 181347817,
          "referenceAllele": "A",
          "start": 181347816
        }
      ],
      "hgvs": [
        "NC_000001.9:g.181347817A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 93600,
          "referenceAllele": "A",
          "start": 93599
        }
      ],
      "hgvs": [
        "NG_011463.1:g.93600A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001731"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1318,
          "endIntronDirection": "+",
          "endIntronOffset": 1405,
          "referenceAllele": "A",
          "start": 1318,
          "startIntronDirection": "+",
          "startIntronOffset": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006492",
      "geneNCBI_id": 3915,
      "geneSymbol": "LAMC1",
      "hgvs": [
        "ENST00000258341.5:c.1021+1405A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258341.3:n.1021+1405A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741892",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258341.5:c.1021+1405A>C"
          },
          "RefSeq": {
            "hgvs": "NM_002293.4:c.1021+1405A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258341.3:n.1021+1405A>C"
          },
          "RefSeq": {
            "hgvs": "NP_002284.3:n.1021+1405A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1278,
          "endIntronDirection": "+",
          "endIntronOffset": 1405,
          "referenceAllele": "A",
          "start": 1278,
          "startIntronDirection": "+",
          "startIntronOffset": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006492",
      "geneNCBI_id": 3915,
      "geneSymbol": "LAMC1",
      "hgvs": [
        "ENST00000258341.4:c.1021+1405A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258341.3:n.1021+1405A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250367"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 74,
          "endIntronDirection": "+",
          "endIntronOffset": 1405,
          "referenceAllele": "A",
          "start": 74,
          "startIntronDirection": "+",
          "startIntronOffset": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006492",
      "geneNCBI_id": 3915,
      "geneSymbol": "LAMC1",
      "hgvs": [
        "ENST00000479499.1:n.74+1405A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319865"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1278,
          "endIntronDirection": "+",
          "endIntronOffset": 1405,
          "referenceAllele": "A",
          "start": 1278,
          "startIntronDirection": "+",
          "startIntronOffset": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006492",
      "geneNCBI_id": 3915,
      "geneSymbol": "LAMC1",
      "hgvs": [
        "NM_002293.3:c.1021+1405A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002284.3:n.1021+1405A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1318,
          "endIntronDirection": "+",
          "endIntronOffset": 1405,
          "referenceAllele": "A",
          "start": 1318,
          "startIntronDirection": "+",
          "startIntronOffset": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006492",
      "geneNCBI_id": 3915,
      "geneSymbol": "LAMC1",
      "hgvs": [
        "NM_002293.4:c.1021+1405A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002284.3:n.1021+1405A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665456",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258341.5:c.1021+1405A>C"
          },
          "RefSeq": {
            "hgvs": "NM_002293.4:c.1021+1405A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258341.3:n.1021+1405A>C"
          },
          "RefSeq": {
            "hgvs": "NP_002284.3:n.1021+1405A>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}