{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA374978466",
  "communityStandardTitle": [
    "NM_001114753.3(ENG):c.1211T>C (p.Val404Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1803697[alleleid]",
        "alleleId": 1803697,
        "preferredName": "NM_001114753.3(ENG):c.1211T>C (p.Val404Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1750547",
        "RCV": [
          "RCV002355851"
        ],
        "variationId": 1750547
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.130582240A>G?assembly=hg19",
        "id": "chr9:g.130582240A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.127819961A>G?assembly=hg38",
        "id": "chr9:g.127819961A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2539064206",
        "rs": 2539064206
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 127819961,
          "referenceAllele": "A",
          "start": 127819960
        }
      ],
      "hgvs": [
        "NC_000009.12:g.127819961A>G",
        "CM000671.2:g.127819961A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 130582240,
          "referenceAllele": "A",
          "start": 130582239
        }
      ],
      "hgvs": [
        "NC_000009.11:g.130582240A>G",
        "CM000671.1:g.130582240A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 129622061,
          "referenceAllele": "A",
          "start": 129622060
        }
      ],
      "hgvs": [
        "NC_000009.10:g.129622061A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 39808,
          "referenceAllele": "T",
          "start": 39807
        }
      ],
      "hgvs": [
        "NG_009551.1:g.39808T>C",
        "LRG_589:g.39808T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001605"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1373,
          "referenceAllele": "T",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000480266.6:c.665T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479015.1:p.Val222Ala",
        "hgvsWellDefined": "ENSP00000479015.1:p.Val222Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914135"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1514,
          "referenceAllele": "T",
          "start": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000373203.9:c.1211T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362299.4:p.Val404Ala",
        "hgvsWellDefined": "ENSP00000362299.4:p.Val404Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751176",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373203.9:c.1211T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001114753.3:c.1211T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362299.4:p.Val404Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001108225.1:p.Val404Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1492,
          "referenceAllele": "T",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000344849.4:c.1211T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341917.3:p.Val404Ala",
        "hgvsWellDefined": "ENSP00000341917.3:p.Val404Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262075"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1612,
          "referenceAllele": "T",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000373203.8:c.1211T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362299.4:p.Val404Ala",
        "hgvsWellDefined": "ENSP00000362299.4:p.Val404Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269560"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1369,
          "referenceAllele": "T",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000480266.5:c.665T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479015.1:p.Val222Ala",
        "hgvsWellDefined": "ENSP00000479015.1:p.Val222Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320452"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 179,
          "referenceAllele": "T",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000486329.1:n.179T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325158"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825044697",
      "coordinates": [
        {
          "allele": "C",
          "end": 1629,
          "referenceAllele": "T",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_000118.3:c.1211T>C",
        "LRG_589t1:c.1211T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000109.1:p.Val404Ala",
        "hgvsWellDefined": "NP_000109.1:p.Val404Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580146213",
      "coordinates": [
        {
          "allele": "C",
          "end": 1629,
          "referenceAllele": "T",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001114753.2:c.1211T>C",
        "LRG_589t2:c.1211T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001108225.1:p.Val404Ala",
        "hgvsWellDefined": "NP_001108225.1:p.Val404Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826581537",
      "coordinates": [
        {
          "allele": "C",
          "end": 1369,
          "referenceAllele": "T",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001278138.1:c.665T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265067.1:p.Val222Ala",
        "hgvsWellDefined": "NP_001265067.1:p.Val222Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021073"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1568,
          "endIntronDirection": "-",
          "endIntronOffset": 1233,
          "referenceAllele": "A",
          "start": 1568,
          "startIntronDirection": "-",
          "startIntronOffset": 1234
        }
      ],
      "hgvs": [
        "NR_136302.1:n.1569-1234A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580146213",
      "coordinates": [
        {
          "allele": "C",
          "end": 1514,
          "referenceAllele": "T",
          "start": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001114753.3:c.1211T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001108225.1:p.Val404Ala",
        "hgvsWellDefined": "NP_001108225.1:p.Val404Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712132",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373203.9:c.1211T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001114753.3:c.1211T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362299.4:p.Val404Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001108225.1:p.Val404Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826581537",
      "coordinates": [
        {
          "allele": "C",
          "end": 1337,
          "referenceAllele": "T",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001278138.2:c.665T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265067.1:p.Val222Ala",
        "hgvsWellDefined": "NP_001265067.1:p.Val222Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715455"
    }
  ],
  "type": "nucleotide"
}