{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA404891588",
  "communityStandardTitle": [
    "NM_000095.3(COMP):c.891C>A (p.Asn297Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1675345[alleleid]",
        "alleleId": 1675345,
        "preferredName": "NM_000095.3(COMP):c.891C>A (p.Asn297Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1683447",
        "RCV": [
          "RCV002238715"
        ],
        "variationId": 1683447
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.18899105G>T?assembly=hg19",
        "id": "chr19:g.18899105G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.18788296G>T?assembly=hg38",
        "id": "chr19:g.18788296G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2145903243",
        "rs": 2145903243
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 18788296,
          "referenceAllele": "G",
          "start": 18788295
        }
      ],
      "hgvs": [
        "NC_000019.10:g.18788296G>T",
        "CM000681.2:g.18788296G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 18899105,
          "referenceAllele": "G",
          "start": 18899104
        }
      ],
      "hgvs": [
        "NC_000019.9:g.18899105G>T",
        "CM000681.1:g.18899105G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 18760105,
          "referenceAllele": "G",
          "start": 18760104
        }
      ],
      "hgvs": [
        "NC_000019.8:g.18760105G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8010,
          "referenceAllele": "C",
          "start": 8009
        }
      ],
      "hgvs": [
        "NG_007070.1:g.8010C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000450"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 927,
          "referenceAllele": "C",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002227",
      "geneNCBI_id": 1311,
      "geneSymbol": "COMP",
      "hgvs": [
        "ENST00000222271.7:c.891C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222271.2:p.Asn297Lys",
        "hgvsWellDefined": "ENSP00000222271.2:p.Asn297Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740559",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222271.7:c.891C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000095.3:c.891C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222271.2:p.Asn297Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000086.2:p.Asn297Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 936,
          "referenceAllele": "C",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002227",
      "geneNCBI_id": 1311,
      "geneSymbol": "COMP",
      "hgvs": [
        "ENST00000222271.6:c.891C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000222271.2:p.Asn297Lys",
        "hgvsWellDefined": "ENSP00000222271.2:p.Asn297Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 768,
          "referenceAllele": "C",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002227",
      "geneNCBI_id": 1311,
      "geneSymbol": "COMP",
      "hgvs": [
        "ENST00000425807.1:c.732C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403792.1:p.Asn244Lys",
        "hgvsWellDefined": "ENSP00000403792.1:p.Asn244Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1182,
          "referenceAllele": "C",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002227",
      "geneNCBI_id": 1311,
      "geneSymbol": "COMP",
      "hgvs": [
        "ENST00000542601.6:c.792C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439156.2:p.Asn264Lys",
        "hgvsWellDefined": "ENSP00000439156.2:p.Asn264Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363550"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573162297",
      "coordinates": [
        {
          "allele": "A",
          "end": 927,
          "referenceAllele": "C",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002227",
      "geneNCBI_id": 1311,
      "geneSymbol": "COMP",
      "hgvs": [
        "NM_000095.2:c.891C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000086.2:p.Asn297Lys",
        "hgvsWellDefined": "NP_000086.2:p.Asn297Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006159"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573162297",
      "coordinates": [
        {
          "allele": "A",
          "end": 927,
          "referenceAllele": "C",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002227",
      "geneNCBI_id": 1311,
      "geneSymbol": "COMP",
      "hgvs": [
        "NM_000095.3:c.891C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000086.2:p.Asn297Lys",
        "hgvsWellDefined": "NP_000086.2:p.Asn297Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662312",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222271.7:c.891C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000095.3:c.891C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222271.2:p.Asn297Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000086.2:p.Asn297Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}