{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1510039215",
  "communityStandardTitle": [
    "NM_006745.5(MSMO1):c.731A= (p.Tyr244=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/760048191",
        "rs": 760048191
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 165341795,
          "referenceAllele": "A",
          "start": 165341794
        }
      ],
      "hgvs": [
        "NC_000004.12:g.165341795A=",
        "CM000666.2:g.165341795A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 166262947,
          "referenceAllele": "A",
          "start": 166262946
        }
      ],
      "hgvs": [
        "NC_000004.11:g.166262947A=",
        "CM000666.1:g.166262947A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 166482397,
          "referenceAllele": "A",
          "start": 166482396
        }
      ],
      "hgvs": [
        "NC_000004.10:g.166482397A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 19130,
          "referenceAllele": "A",
          "start": 19129
        }
      ],
      "hgvs": [
        "NG_042288.1:g.19130A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005992"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 858,
          "referenceAllele": "A",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010545",
      "geneNCBI_id": 6307,
      "geneSymbol": "MSMO1",
      "hgvs": [
        "ENST00000261507.11:c.731A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261507.6:p.Tyr244="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261507.11:c.731A="
          },
          "RefSeq": {
            "hgvs": "NM_006745.5:c.731A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261507.6:p.Tyr244="
          },
          "RefSeq": {
            "hgvs": "NP_006736.1:p.Tyr244="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 904,
          "referenceAllele": "A",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010545",
      "geneNCBI_id": 6307,
      "geneSymbol": "MSMO1",
      "hgvs": [
        "ENST00000261507.10:c.731A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261507.6:p.Tyr244="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250769"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 555,
          "referenceAllele": "A",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010545",
      "geneNCBI_id": 6307,
      "geneSymbol": "MSMO1",
      "hgvs": [
        "ENST00000393766.6:c.338A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377361.2:p.Tyr113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275801"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 575,
          "referenceAllele": "A",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010545",
      "geneNCBI_id": 6307,
      "geneSymbol": "MSMO1",
      "hgvs": [
        "NM_001017369.2:c.338A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001017369.1:p.Tyr113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008558"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070094987",
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "referenceAllele": "A",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010545",
      "geneNCBI_id": 6307,
      "geneSymbol": "MSMO1",
      "hgvs": [
        "NM_006745.4:c.731A="
      ],
      "proteinEffect": {
        "hgvs": "NP_006736.1:p.Tyr244="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031731"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 978,
          "referenceAllele": "A",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010545",
      "geneNCBI_id": 6307,
      "geneSymbol": "MSMO1",
      "hgvs": [
        "XM_005263176.1:c.731A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005263233.1:p.Tyr244="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063703"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 978,
          "referenceAllele": "A",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010545",
      "geneNCBI_id": 6307,
      "geneSymbol": "MSMO1",
      "hgvs": [
        "XM_005263176.2:c.731A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005263233.1:p.Tyr244="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070094987",
      "coordinates": [
        {
          "allele": "A",
          "end": 858,
          "referenceAllele": "A",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010545",
      "geneNCBI_id": 6307,
      "geneSymbol": "MSMO1",
      "hgvs": [
        "NM_006745.5:c.731A="
      ],
      "proteinEffect": {
        "hgvs": "NP_006736.1:p.Tyr244="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667601",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261507.11:c.731A="
          },
          "RefSeq": {
            "hgvs": "NM_006745.5:c.731A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261507.6:p.Tyr244="
          },
          "RefSeq": {
            "hgvs": "NP_006736.1:p.Tyr244="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 572,
          "referenceAllele": "A",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010545",
      "geneNCBI_id": 6307,
      "geneSymbol": "MSMO1",
      "hgvs": [
        "NM_001017369.3:c.338A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001017369.1:p.Tyr113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711374"
    }
  ],
  "type": "nucleotide"
}