{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1967967542",
  "communityStandardTitle": [
    "NM_021926.4(ALX4):c.418C= (p.Gln140=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894191",
        "rs": 104894191
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 44309645,
          "referenceAllele": "G",
          "start": 44309644
        }
      ],
      "hgvs": [
        "NC_000011.10:g.44309645G=",
        "CM000673.2:g.44309645G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 44331195,
          "referenceAllele": "G",
          "start": 44331194
        }
      ],
      "hgvs": [
        "NC_000011.9:g.44331195G=",
        "CM000673.1:g.44331195G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 44287771,
          "referenceAllele": "G",
          "start": 44287770
        }
      ],
      "hgvs": [
        "NC_000011.8:g.44287771G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5522,
          "referenceAllele": "C",
          "start": 5521
        }
      ],
      "hgvs": [
        "NG_015809.1:g.5522C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002841"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 495,
          "referenceAllele": "C",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000450",
      "geneNCBI_id": 60529,
      "geneSymbol": "ALX4",
      "hgvs": [
        "ENST00000652299.1:c.418C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498217.1:p.Gln140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772132",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652299.1:c.418C="
          },
          "RefSeq": {
            "hgvs": "NM_021926.4:c.418C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498217.1:p.Gln140="
          },
          "RefSeq": {
            "hgvs": "NP_068745.2:p.Gln140="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 522,
          "referenceAllele": "C",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000450",
      "geneNCBI_id": 60529,
      "geneSymbol": "ALX4",
      "hgvs": [
        "ENST00000329255.3:c.418C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332744.3:p.Gln140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077709482",
      "coordinates": [
        {
          "allele": "C",
          "end": 522,
          "referenceAllele": "C",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000450",
      "geneNCBI_id": 60529,
      "geneSymbol": "ALX4",
      "hgvs": [
        "NM_021926.3:c.418C="
      ],
      "proteinEffect": {
        "hgvs": "NP_068745.2:p.Gln140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037078"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 547,
          "referenceAllele": "C",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000450",
      "geneNCBI_id": 60529,
      "geneSymbol": "ALX4",
      "hgvs": [
        "XM_011520264.1:c.418C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518566.1:p.Gln140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087433"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2373,
          "referenceAllele": "C",
          "start": 2372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000450",
      "geneNCBI_id": 60529,
      "geneSymbol": "ALX4",
      "hgvs": [
        "XM_011520265.1:c.-105C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518567.1:n.-105C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077709482",
      "coordinates": [
        {
          "allele": "C",
          "end": 495,
          "referenceAllele": "C",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000450",
      "geneNCBI_id": 60529,
      "geneSymbol": "ALX4",
      "hgvs": [
        "NM_021926.4:c.418C="
      ],
      "proteinEffect": {
        "hgvs": "NP_068745.2:p.Gln140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526066",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652299.1:c.418C="
          },
          "RefSeq": {
            "hgvs": "NM_021926.4:c.418C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498217.1:p.Gln140="
          },
          "RefSeq": {
            "hgvs": "NP_068745.2:p.Gln140="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}