{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA371010065",
  "communityStandardTitle": [
    "NM_207413.4(ALKAL1):c.263C>A (p.Pro88Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2451541[alleleid]",
        "alleleId": 2451541,
        "preferredName": "NM_207413.4(ALKAL1):c.263C>A (p.Pro88Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2482865",
        "RCV": [
          "RCV004274483"
        ],
        "variationId": 2482865
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.53452453G>T?assembly=hg19",
        "id": "chr8:g.53452453G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.52539893G>T?assembly=hg38",
        "id": "chr8:g.52539893G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2486811771",
        "rs": 2486811771
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 52539893,
          "referenceAllele": "G",
          "start": 52539892
        }
      ],
      "hgvs": [
        "NC_000008.11:g.52539893G>T",
        "CM000670.2:g.52539893G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 53452453,
          "referenceAllele": "G",
          "start": 53452452
        }
      ],
      "hgvs": [
        "NC_000008.10:g.53452453G>T",
        "CM000670.1:g.53452453G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 53615006,
          "referenceAllele": "G",
          "start": 53615005
        }
      ],
      "hgvs": [
        "NC_000008.9:g.53615006G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 437,
          "referenceAllele": "C",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033775",
      "geneNCBI_id": 389658,
      "geneSymbol": "ALKAL1",
      "hgvs": [
        "ENST00000358543.9:c.263C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351345.4:p.Pro88Gln",
        "hgvsWellDefined": "ENSP00000351345.4:p.Pro88Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749088",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358543.9:c.263C>A"
          },
          "RefSeq": {
            "hgvs": "NM_207413.4:c.263C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351345.4:p.Pro88Gln"
          },
          "RefSeq": {
            "hgvs": "NP_997296.1:p.Pro88Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 514,
          "referenceAllele": "C",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033775",
      "geneNCBI_id": 389658,
      "geneSymbol": "ALKAL1",
      "hgvs": [
        "ENST00000358543.8:c.263C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351345.4:p.Pro88Gln",
        "hgvsWellDefined": "ENSP00000351345.4:p.Pro88Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264490"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 415,
          "referenceAllele": "C",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033775",
      "geneNCBI_id": 389658,
      "geneSymbol": "ALKAL1",
      "hgvs": [
        "ENST00000523939.1:c.263C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430953.1:p.Pro88Gln",
        "hgvsWellDefined": "ENSP00000430953.1:p.Pro88Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350205"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580571663",
      "coordinates": [
        {
          "allele": "A",
          "end": 468,
          "referenceAllele": "C",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033775",
      "geneNCBI_id": 389658,
      "geneSymbol": "ALKAL1",
      "hgvs": [
        "NM_207413.3:c.263C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_997296.1:p.Pro88Gln",
        "hgvsWellDefined": "NP_997296.1:p.Pro88Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045505"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580571663",
      "coordinates": [
        {
          "allele": "A",
          "end": 437,
          "referenceAllele": "C",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033775",
      "geneNCBI_id": 389658,
      "geneSymbol": "ALKAL1",
      "hgvs": [
        "NM_207413.4:c.263C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_997296.1:p.Pro88Gln",
        "hgvsWellDefined": "NP_997296.1:p.Pro88Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673317",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358543.9:c.263C>A"
          },
          "RefSeq": {
            "hgvs": "NM_207413.4:c.263C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351345.4:p.Pro88Gln"
          },
          "RefSeq": {
            "hgvs": "NP_997296.1:p.Pro88Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}