{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1883392933",
  "communityStandardTitle": [
    "NM_000093.5(COL5A1):c.5137-11T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/183495554",
        "rs": 183495554
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/771328695",
        "rs": 771328695
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 134834960,
          "referenceAllele": "T",
          "start": 134834959
        }
      ],
      "hgvs": [
        "NC_000009.12:g.134834960T=",
        "CM000671.2:g.134834960T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 137726806,
          "referenceAllele": "T",
          "start": 137726805
        }
      ],
      "hgvs": [
        "NC_000009.11:g.137726806T=",
        "CM000671.1:g.137726806T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 136866627,
          "referenceAllele": "T",
          "start": 136866626
        }
      ],
      "hgvs": [
        "NC_000009.10:g.136866627T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 198155,
          "referenceAllele": "T",
          "start": 198154
        }
      ],
      "hgvs": [
        "NG_008030.1:g.198155T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000787"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5521,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 5521,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "ENST00000371820.4:c.5137-11T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360885.4:n.5137-11T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904513"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5521,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 5521,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "ENST00000371817.8:c.5137-11T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360882.3:n.5137-11T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750871",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371817.8:c.5137-11T="
          },
          "RefSeq": {
            "hgvs": "NM_000093.5:c.5137-11T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360882.3:n.5137-11T="
          },
          "RefSeq": {
            "hgvs": "NP_000084.3:n.5137-11T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5550,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 5550,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "ENST00000371817.7:c.5137-11T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360882.3:n.5137-11T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 394,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 394,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "ENST00000371820.3:c.395-11T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS268770"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5519,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 5519,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "ENST00000618395.4:c.5137-11T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481360.1:n.5137-11T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5519,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 5519,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "NM_000093.4:c.5137-11T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000084.3:n.5137-11T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5519,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 5519,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "NM_001278074.1:c.5137-11T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001265003.1:n.5137-11T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021060"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 70,
          "endIntronDirection": "-",
          "endIntronOffset": 14750,
          "referenceAllele": "A",
          "start": 70,
          "startIntronDirection": "-",
          "startIntronOffset": 14751
        }
      ],
      "hgvs": [
        "NR_103451.2:n.71-14751A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5820,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 5820,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "XR_929712.1:n.5821-11T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5688,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 5688,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "XR_929713.1:n.5689-11T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125842"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5521,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 5521,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "NM_000093.5:c.5137-11T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000084.3:n.5137-11T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674700",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371817.8:c.5137-11T="
          },
          "RefSeq": {
            "hgvs": "NM_000093.5:c.5137-11T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360882.3:n.5137-11T="
          },
          "RefSeq": {
            "hgvs": "NP_000084.3:n.5137-11T="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}