{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3864762",
  "communityStandardTitle": [
    "NM_021073.4(BMP5):c.846C>T (p.Asn282=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3762143"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3218014[alleleid]",
        "alleleId": 3218014,
        "preferredName": "NM_021073.4(BMP5):c.846C>T (p.Asn282=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3060109",
        "RCV": [
          "RCV003982138"
        ],
        "variationId": 3060109
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-55639028-G-A",
        "id": "6-55639028-G-A",
        "variant": "6:55639028 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.55639028G>A?assembly=hg19",
        "id": "chr6:g.55639028G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.55774230G>A?assembly=hg38",
        "id": "chr6:g.55774230G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/41271330",
        "rs": 41271330
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-55639028-G-A?dataset=gnomad_r2_1",
        "id": "6-55639028-G-A",
        "variant": "6:55639028 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-55774230-G-A?dataset=gnomad_r3",
        "id": "6-55774230-G-A",
        "variant": "6:55774230 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-55774230-G-A?dataset=gnomad_r4",
        "id": "6-55774230-G-A",
        "variant": "6:55774230 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 55774230,
          "referenceAllele": "G",
          "start": 55774229
        }
      ],
      "hgvs": [
        "NC_000006.12:g.55774230G>A",
        "CM000668.2:g.55774230G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 55639028,
          "referenceAllele": "G",
          "start": 55639027
        }
      ],
      "hgvs": [
        "NC_000006.11:g.55639028G>A",
        "CM000668.1:g.55639028G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 55746987,
          "referenceAllele": "G",
          "start": 55746986
        }
      ],
      "hgvs": [
        "NC_000006.10:g.55746987G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1571,
          "referenceAllele": "C",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001072",
      "geneNCBI_id": 653,
      "geneSymbol": "BMP5",
      "hgvs": [
        "ENST00000370830.4:c.846C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359866.3:p.Asn282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750686",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370830.4:c.846C>T"
          },
          "RefSeq": {
            "hgvs": "NM_021073.4:c.846C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359866.3:p.Asn282="
          },
          "RefSeq": {
            "hgvs": "NP_066551.1:p.Asn282="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1545,
          "referenceAllele": "C",
          "start": 1544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001072",
      "geneNCBI_id": 653,
      "geneSymbol": "BMP5",
      "hgvs": [
        "ENST00000370830.3:c.846C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359866.3:p.Asn282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268269"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829986954",
      "coordinates": [
        {
          "allele": "T",
          "end": 1558,
          "referenceAllele": "C",
          "start": 1557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001072",
      "geneNCBI_id": 653,
      "geneSymbol": "BMP5",
      "hgvs": [
        "NM_021073.2:c.846C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066551.1:p.Asn282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1574,
          "referenceAllele": "C",
          "start": 1573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001072",
      "geneNCBI_id": 653,
      "geneSymbol": "BMP5",
      "hgvs": [
        "XM_005249304.2:c.846C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249361.1:p.Asn282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1574,
          "referenceAllele": "C",
          "start": 1573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001072",
      "geneNCBI_id": 653,
      "geneSymbol": "BMP5",
      "hgvs": [
        "XM_011514816.1:c.846C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513118.1:p.Asn282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082038"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1574,
          "referenceAllele": "C",
          "start": 1573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001072",
      "geneNCBI_id": 653,
      "geneSymbol": "BMP5",
      "hgvs": [
        "XM_011514817.1:c.846C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513119.1:p.Asn282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082039"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827270677",
      "coordinates": [
        {
          "allele": "T",
          "end": 1571,
          "referenceAllele": "C",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001072",
      "geneNCBI_id": 653,
      "geneSymbol": "BMP5",
      "hgvs": [
        "NM_001329754.1:c.846C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316683.1:p.Asn282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516361"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827270721",
      "coordinates": [
        {
          "allele": "T",
          "end": 1571,
          "referenceAllele": "C",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001072",
      "geneNCBI_id": 653,
      "geneSymbol": "BMP5",
      "hgvs": [
        "NM_001329756.1:c.846C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316685.1:p.Asn282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516363"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829986954",
      "coordinates": [
        {
          "allele": "T",
          "end": 1571,
          "referenceAllele": "C",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001072",
      "geneNCBI_id": 653,
      "geneSymbol": "BMP5",
      "hgvs": [
        "NM_021073.3:c.846C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066551.1:p.Asn282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 860,
          "referenceAllele": "C",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001072",
      "geneNCBI_id": 653,
      "geneSymbol": "BMP5",
      "hgvs": [
        "XM_011514817.3:c.846C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513119.1:p.Asn282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543479"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829986954",
      "coordinates": [
        {
          "allele": "T",
          "end": 1571,
          "referenceAllele": "C",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001072",
      "geneNCBI_id": 653,
      "geneSymbol": "BMP5",
      "hgvs": [
        "NM_021073.4:c.846C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066551.1:p.Asn282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670198",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370830.4:c.846C>T"
          },
          "RefSeq": {
            "hgvs": "NM_021073.4:c.846C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359866.3:p.Asn282="
          },
          "RefSeq": {
            "hgvs": "NP_066551.1:p.Asn282="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827270677",
      "coordinates": [
        {
          "allele": "T",
          "end": 1571,
          "referenceAllele": "C",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001072",
      "geneNCBI_id": 653,
      "geneSymbol": "BMP5",
      "hgvs": [
        "NM_001329754.2:c.846C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316683.1:p.Asn282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686665"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827270721",
      "coordinates": [
        {
          "allele": "T",
          "end": 1571,
          "referenceAllele": "C",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001072",
      "geneNCBI_id": 653,
      "geneSymbol": "BMP5",
      "hgvs": [
        "NM_001329756.2:c.846C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316685.1:p.Asn282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686667"
    }
  ],
  "type": "nucleotide"
}