{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1883381845",
  "communityStandardTitle": [
    "NM_000093.5(COL5A1):c.3299C= (p.Pro1100=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/564375308",
        "rs": 564375308
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 134806229,
          "referenceAllele": "C",
          "start": 134806228
        }
      ],
      "hgvs": [
        "NC_000009.12:g.134806229C=",
        "CM000671.2:g.134806229C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 137698075,
          "referenceAllele": "C",
          "start": 137698074
        }
      ],
      "hgvs": [
        "NC_000009.11:g.137698075C=",
        "CM000671.1:g.137698075C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 136837896,
          "referenceAllele": "C",
          "start": 136837895
        }
      ],
      "hgvs": [
        "NC_000009.10:g.136837896C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 169424,
          "referenceAllele": "C",
          "start": 169423
        }
      ],
      "hgvs": [
        "NG_008030.1:g.169424C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000787"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3684,
          "referenceAllele": "C",
          "start": 3683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "ENST00000371820.4:c.3299C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360885.4:p.Pro1100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904513"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3684,
          "referenceAllele": "C",
          "start": 3683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "ENST00000371817.8:c.3299C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360882.3:p.Pro1100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750871",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371817.8:c.3299C="
          },
          "RefSeq": {
            "hgvs": "NM_000093.5:c.3299C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360882.3:p.Pro1100="
          },
          "RefSeq": {
            "hgvs": "NP_000084.3:p.Pro1100="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3713,
          "referenceAllele": "C",
          "start": 3712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "ENST00000371817.7:c.3299C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360882.3:p.Pro1100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268767"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3682,
          "referenceAllele": "C",
          "start": 3681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "ENST00000618395.4:c.3299C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481360.1:p.Pro1100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075736618",
      "coordinates": [
        {
          "allele": "C",
          "end": 3682,
          "referenceAllele": "C",
          "start": 3681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "NM_000093.4:c.3299C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000084.3:p.Pro1100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3682,
          "referenceAllele": "C",
          "start": 3681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "NM_001278074.1:c.3299C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001265003.1:p.Pro1100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021060"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3701,
          "referenceAllele": "C",
          "start": 3700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "XR_929712.1:n.3701C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125841"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3701,
          "referenceAllele": "C",
          "start": 3700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "XR_929713.1:n.3701C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125842"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3698,
          "referenceAllele": "C",
          "start": 3697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "XM_017014266.2:c.3299C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016869755.1:p.Pro1100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567288"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3697,
          "referenceAllele": "C",
          "start": 3696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "XR_001746183.1:n.3697C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594538"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075736618",
      "coordinates": [
        {
          "allele": "C",
          "end": 3684,
          "referenceAllele": "C",
          "start": 3683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "NM_000093.5:c.3299C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000084.3:p.Pro1100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674700",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371817.8:c.3299C="
          },
          "RefSeq": {
            "hgvs": "NM_000093.5:c.3299C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360882.3:p.Pro1100="
          },
          "RefSeq": {
            "hgvs": "NP_000084.3:p.Pro1100="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}