{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA371290210",
  "communityStandardTitle": [
    "NM_005372.1(MOS):c.416T>C (p.Met139Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2543809[alleleid]",
        "alleleId": 2543809,
        "preferredName": "NM_005372.1(MOS):c.416T>C (p.Met139Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2502326",
        "RCV": [
          "RCV003228745"
        ],
        "variationId": 2502326
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.57026126A>G?assembly=hg19",
        "id": "chr8:g.57026126A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.56113567A>G?assembly=hg38",
        "id": "chr8:g.56113567A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2487036131",
        "rs": 2487036131
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-56113567-A-G?dataset=gnomad_r4",
        "id": "8-56113567-A-G",
        "variant": "8:56113567 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 56113567,
          "referenceAllele": "A",
          "start": 56113566
        }
      ],
      "hgvs": [
        "NC_000008.11:g.56113567A>G",
        "CM000670.2:g.56113567A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 57026126,
          "referenceAllele": "A",
          "start": 57026125
        }
      ],
      "hgvs": [
        "NC_000008.10:g.57026126A>G",
        "CM000670.1:g.57026126A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 57188680,
          "referenceAllele": "A",
          "start": 57188679
        }
      ],
      "hgvs": [
        "NC_000008.9:g.57188680A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 416,
          "referenceAllele": "T",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007199",
      "geneNCBI_id": 4342,
      "geneSymbol": "MOS",
      "hgvs": [
        "ENST00000311923.1:c.416T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310722.1:p.Met139Thr",
        "hgvsWellDefined": "ENSP00000310722.1:p.Met139Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256606",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311923.1:c.416T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005372.1:c.416T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310722.1:p.Met139Thr"
          },
          "RefSeq": {
            "hgvs": "NP_005363.1:p.Met139Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741921603",
      "coordinates": [
        {
          "allele": "C",
          "end": 416,
          "referenceAllele": "T",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007199",
      "geneNCBI_id": 4342,
      "geneSymbol": "MOS",
      "hgvs": [
        "NM_005372.1:c.416T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005363.1:p.Met139Thr",
        "hgvsWellDefined": "NP_005363.1:p.Met139Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030474",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311923.1:c.416T>C"
          },
          "RefSeq": {
            "hgvs": "NM_005372.1:c.416T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310722.1:p.Met139Thr"
          },
          "RefSeq": {
            "hgvs": "NP_005363.1:p.Met139Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}