{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA411455566",
  "communityStandardTitle": [
    "NM_001039141.3(TRIOBP):c.889C>A (p.Gln297Lys)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.38119452C>A?assembly=hg19",
        "id": "chr22:g.38119452C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.37723445C>A?assembly=hg38",
        "id": "chr22:g.37723445C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118204028",
        "rs": 118204028
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-37723445-C-A?dataset=gnomad_r4",
        "id": "22-37723445-C-A",
        "variant": "22:37723445 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 37723445,
          "referenceAllele": "C",
          "start": 37723444
        }
      ],
      "hgvs": [
        "NC_000022.11:g.37723445C>A",
        "CM000684.2:g.37723445C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 38119452,
          "referenceAllele": "C",
          "start": 38119451
        }
      ],
      "hgvs": [
        "NC_000022.10:g.38119452C>A",
        "CM000684.1:g.38119452C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 36449398,
          "referenceAllele": "C",
          "start": 36449397
        }
      ],
      "hgvs": [
        "NC_000022.9:g.36449398C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 31458,
          "referenceAllele": "C",
          "start": 31457
        }
      ],
      "hgvs": [
        "NG_012857.1:g.31458C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002588"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1100,
          "referenceAllele": "C",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017009",
      "geneNCBI_id": 11078,
      "geneSymbol": "TRIOBP",
      "hgvs": [
        "ENST00000644935.1:c.889C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496394.1:p.Gln297Lys",
        "hgvsWellDefined": "ENSP00000496394.1:p.Gln297Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768083",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644935.1:c.889C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001039141.3:c.889C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496394.1:p.Gln297Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001034230.1:p.Gln297Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 823,
          "referenceAllele": "C",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017009",
      "geneNCBI_id": 11078,
      "geneSymbol": "TRIOBP",
      "hgvs": [
        "ENST00000344404.10:c.*372C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340312.6:n.*372C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1144,
          "referenceAllele": "C",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017009",
      "geneNCBI_id": 11078,
      "geneSymbol": "TRIOBP",
      "hgvs": [
        "ENST00000406386.7:c.889C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384312.3:p.Gln297Lys",
        "hgvsWellDefined": "ENSP00000384312.3:p.Gln297Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280618"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1846,
          "referenceAllele": "C",
          "start": 1845
        }
      ],
      "hgvs": [
        "ENST00000455236.4:c.1846C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477208.1:n.1846C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 823,
          "referenceAllele": "C",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017009",
      "geneNCBI_id": 11078,
      "geneSymbol": "TRIOBP",
      "hgvs": [
        "ENST00000492485.5:n.823C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088582163",
      "coordinates": [
        {
          "allele": "A",
          "end": 1160,
          "referenceAllele": "C",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017009",
      "geneNCBI_id": 11078,
      "geneSymbol": "TRIOBP",
      "hgvs": [
        "NM_001039141.2:c.889C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001034230.1:p.Gln297Lys",
        "hgvsWellDefined": "NP_001034230.1:p.Gln297Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009337"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088582163",
      "coordinates": [
        {
          "allele": "A",
          "end": 1100,
          "referenceAllele": "C",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017009",
      "geneNCBI_id": 11078,
      "geneSymbol": "TRIOBP",
      "hgvs": [
        "NM_001039141.3:c.889C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001034230.1:p.Gln297Lys",
        "hgvsWellDefined": "NP_001034230.1:p.Gln297Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663106",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644935.1:c.889C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001039141.3:c.889C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496394.1:p.Gln297Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001034230.1:p.Gln297Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}