{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA374982291",
  "communityStandardTitle": [
    "NM_001114753.3(ENG):c.920A>T (p.Asn307Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1814772[alleleid]",
        "alleleId": 1814772,
        "preferredName": "NM_001114753.3(ENG):c.920A>T (p.Asn307Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1766194",
        "RCV": [
          "RCV002371252",
          "RCV003594246"
        ],
        "variationId": 1766194
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.130587150T>A?assembly=hg19",
        "id": "chr9:g.130587150T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.127824871T>A?assembly=hg38",
        "id": "chr9:g.127824871T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/779815395",
        "rs": 779815395
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 127824871,
          "referenceAllele": "T",
          "start": 127824870
        }
      ],
      "hgvs": [
        "NC_000009.12:g.127824871T>A",
        "CM000671.2:g.127824871T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 130587150,
          "referenceAllele": "T",
          "start": 130587149
        }
      ],
      "hgvs": [
        "NC_000009.11:g.130587150T>A",
        "CM000671.1:g.130587150T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 129626971,
          "referenceAllele": "T",
          "start": 129626970
        }
      ],
      "hgvs": [
        "NC_000009.10:g.129626971T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 34898,
          "referenceAllele": "A",
          "start": 34897
        }
      ],
      "hgvs": [
        "NG_009551.1:g.34898A>T",
        "LRG_589:g.34898A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001605"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1082,
          "referenceAllele": "A",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000480266.6:c.374A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479015.1:p.Asn125Ile",
        "hgvsWellDefined": "ENSP00000479015.1:p.Asn125Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1223,
          "referenceAllele": "A",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000373203.9:c.920A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362299.4:p.Asn307Ile",
        "hgvsWellDefined": "ENSP00000362299.4:p.Asn307Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751176",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373203.9:c.920A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001114753.3:c.920A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362299.4:p.Asn307Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001108225.1:p.Asn307Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1201,
          "referenceAllele": "A",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000344849.4:c.920A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341917.3:p.Asn307Ile",
        "hgvsWellDefined": "ENSP00000341917.3:p.Asn307Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262075"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1321,
          "referenceAllele": "A",
          "start": 1320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000373203.8:c.920A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362299.4:p.Asn307Ile",
        "hgvsWellDefined": "ENSP00000362299.4:p.Asn307Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269560"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1078,
          "referenceAllele": "A",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000480266.5:c.374A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479015.1:p.Asn125Ile",
        "hgvsWellDefined": "ENSP00000479015.1:p.Asn125Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825044515",
      "coordinates": [
        {
          "allele": "T",
          "end": 1338,
          "referenceAllele": "A",
          "start": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_000118.3:c.920A>T",
        "LRG_589t1:c.920A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000109.1:p.Asn307Ile",
        "hgvsWellDefined": "NP_000109.1:p.Asn307Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825579223",
      "coordinates": [
        {
          "allele": "T",
          "end": 1338,
          "referenceAllele": "A",
          "start": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001114753.2:c.920A>T",
        "LRG_589t2:c.920A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001108225.1:p.Asn307Ile",
        "hgvsWellDefined": "NP_001108225.1:p.Asn307Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826581406",
      "coordinates": [
        {
          "allele": "T",
          "end": 1078,
          "referenceAllele": "A",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001278138.1:c.374A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265067.1:p.Asn125Ile",
        "hgvsWellDefined": "NP_001265067.1:p.Asn125Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021073"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825579223",
      "coordinates": [
        {
          "allele": "T",
          "end": 1223,
          "referenceAllele": "A",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001114753.3:c.920A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001108225.1:p.Asn307Ile",
        "hgvsWellDefined": "NP_001108225.1:p.Asn307Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712132",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373203.9:c.920A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001114753.3:c.920A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362299.4:p.Asn307Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001108225.1:p.Asn307Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826581406",
      "coordinates": [
        {
          "allele": "T",
          "end": 1046,
          "referenceAllele": "A",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001278138.2:c.374A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265067.1:p.Asn125Ile",
        "hgvsWellDefined": "NP_001265067.1:p.Asn125Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715455"
    }
  ],
  "type": "nucleotide"
}