{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10650623",
  "communityStandardTitle": [
    "NM_001379500.1(COL18A1):c.1044G>A (p.Pro348=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=346711[alleleid]",
        "alleleId": 346711,
        "preferredName": "NM_001379500.1(COL18A1):c.1044G>A (p.Pro348=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/340211",
        "RCV": [
          "RCV000291371",
          "RCV002057764"
        ],
        "variationId": 340211
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.46897702G>A?assembly=hg19",
        "id": "chr21:g.46897702G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.45477788G>A?assembly=hg38",
        "id": "chr21:g.45477788G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886057122",
        "rs": 886057122
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-46897702-G-A?dataset=gnomad_r2_1",
        "id": "21-46897702-G-A",
        "variant": "21:46897702 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-45477788-G-A?dataset=gnomad_r3",
        "id": "21-45477788-G-A",
        "variant": "21:45477788 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-45477788-G-A?dataset=gnomad_r4",
        "id": "21-45477788-G-A",
        "variant": "21:45477788 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 45477788,
          "referenceAllele": "G",
          "start": 45477787
        }
      ],
      "hgvs": [
        "NC_000021.9:g.45477788G>A",
        "CM000683.2:g.45477788G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 46897702,
          "referenceAllele": "G",
          "start": 46897701
        }
      ],
      "hgvs": [
        "NC_000021.8:g.46897702G>A",
        "CM000683.1:g.46897702G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 45722130,
          "referenceAllele": "G",
          "start": 45722129
        }
      ],
      "hgvs": [
        "NC_000021.7:g.45722130G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 77606,
          "referenceAllele": "G",
          "start": 77605
        }
      ],
      "hgvs": [
        "NG_011903.1:g.77606G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002052"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1593,
          "referenceAllele": "G",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002195",
      "geneNCBI_id": 80781,
      "geneSymbol": "COL18A1",
      "hgvs": [
        "ENST00000355480.10:c.1584G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347665.5:p.Pro528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1110,
          "referenceAllele": "G",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002195",
      "geneNCBI_id": 80781,
      "geneSymbol": "COL18A1",
      "hgvs": [
        "ENST00000651438.1:c.1044G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498485.1:p.Pro348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771668",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651438.1:c.1044G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001379500.1:c.1044G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498485.1:p.Pro348="
          },
          "RefSeq": {
            "hgvs": "NP_001366429.1:p.Pro348="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1626,
          "referenceAllele": "G",
          "start": 1625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002195",
      "geneNCBI_id": 80781,
      "geneSymbol": "COL18A1",
      "hgvs": [
        "ENST00000355480.9:c.1584G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347665.5:p.Pro528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263444"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2289,
          "referenceAllele": "G",
          "start": 2288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002195",
      "geneNCBI_id": 80781,
      "geneSymbol": "COL18A1",
      "hgvs": [
        "ENST00000359759.8:c.2289G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352798.4:p.Pro763="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1138,
          "referenceAllele": "G",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002195",
      "geneNCBI_id": 80781,
      "geneSymbol": "COL18A1",
      "hgvs": [
        "ENST00000400337.6:c.1044G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383191.2:p.Pro348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830035234",
      "coordinates": [
        {
          "allele": "A",
          "end": 1605,
          "referenceAllele": "G",
          "start": 1604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002195",
      "geneNCBI_id": 80781,
      "geneSymbol": "COL18A1",
      "hgvs": [
        "NM_030582.3:c.1584G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_085059.2:p.Pro528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038334"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830167398",
      "coordinates": [
        {
          "allele": "A",
          "end": 2310,
          "referenceAllele": "G",
          "start": 2309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002195",
      "geneNCBI_id": 80781,
      "geneSymbol": "COL18A1",
      "hgvs": [
        "NM_130444.2:c.2289G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_569711.2:p.Pro763="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1138,
          "referenceAllele": "G",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002195",
      "geneNCBI_id": 80781,
      "geneSymbol": "COL18A1",
      "hgvs": [
        "NM_130445.3:c.1044G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_569712.2:p.Pro348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040369"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830035234",
      "coordinates": [
        {
          "allele": "A",
          "end": 1593,
          "referenceAllele": "G",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002195",
      "geneNCBI_id": 80781,
      "geneSymbol": "COL18A1",
      "hgvs": [
        "NM_030582.4:c.1584G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_085059.2:p.Pro528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670969"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830167398",
      "coordinates": [
        {
          "allele": "A",
          "end": 2298,
          "referenceAllele": "G",
          "start": 2297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002195",
      "geneNCBI_id": 80781,
      "geneSymbol": "COL18A1",
      "hgvs": [
        "NM_130444.3:c.2289G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_569711.2:p.Pro763="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671793"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1110,
          "referenceAllele": "G",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002195",
      "geneNCBI_id": 80781,
      "geneSymbol": "COL18A1",
      "hgvs": [
        "NM_130445.4:c.1044G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_569712.2:p.Pro348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671794"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828833286",
      "coordinates": [
        {
          "allele": "A",
          "end": 1110,
          "referenceAllele": "G",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002195",
      "geneNCBI_id": 80781,
      "geneSymbol": "COL18A1",
      "hgvs": [
        "NM_001379500.1:c.1044G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366429.1:p.Pro348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722006",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651438.1:c.1044G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001379500.1:c.1044G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498485.1:p.Pro348="
          },
          "RefSeq": {
            "hgvs": "NP_001366429.1:p.Pro348="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}