{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA658657961",
  "communityStandardTitle": [
    "NM_020549.5(CHAT):c.1381G= (p.Val461=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=441375[alleleid]",
        "alleleId": 441375,
        "preferredName": "NM_020549.5(CHAT):c.1381= (p.Val461=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/447029",
        "RCV": [
          "RCV000518281",
          "RCV000548327"
        ],
        "variationId": 447029
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.50856652G>G?assembly=hg19",
        "id": "chr10:g.50856652G>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.49648606G>G?assembly=hg38",
        "id": "chr10:g.49648606G>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4838544",
        "rs": 4838544
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 49648606,
          "referenceAllele": "G",
          "start": 49648605
        }
      ],
      "hgvs": [
        "NC_000010.11:g.49648606G=",
        "CM000672.2:g.49648606G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 50856652,
          "referenceAllele": "G",
          "start": 50856651
        }
      ],
      "hgvs": [
        "NC_000010.10:g.50856652G=",
        "CM000672.1:g.50856652G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 50526658,
          "referenceAllele": "G",
          "start": 50526657
        }
      ],
      "hgvs": [
        "NC_000010.9:g.50526658G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1534,
          "referenceAllele": "G",
          "start": 1533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001912",
      "geneNCBI_id": 1103,
      "geneSymbol": "CHAT",
      "hgvs": [
        "ENST00000337653.7:c.1381G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337103.2:p.Val461="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747674",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000337653.7:c.1381G="
          },
          "RefSeq": {
            "hgvs": "NM_020549.5:c.1381G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337103.2:p.Val461="
          },
          "RefSeq": {
            "hgvs": "NP_065574.4:p.Val461="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 589,
          "referenceAllele": "G",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001912",
      "geneNCBI_id": 1103,
      "geneSymbol": "CHAT",
      "hgvs": [
        "ENST00000638282.1:c.*218G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492646.1:n.*218G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764449"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 525,
          "referenceAllele": "G",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001912",
      "geneNCBI_id": 1103,
      "geneSymbol": "CHAT",
      "hgvs": [
        "ENST00000640822.1:c.244G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491328.1:p.Val82="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765691"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1534,
          "referenceAllele": "G",
          "start": 1533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001912",
      "geneNCBI_id": 1103,
      "geneSymbol": "CHAT",
      "hgvs": [
        "ENST00000337653.6:c.1381G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337103.2:p.Val461="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260507"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1200,
          "referenceAllele": "G",
          "start": 1199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001912",
      "geneNCBI_id": 1103,
      "geneSymbol": "CHAT",
      "hgvs": [
        "ENST00000339797.5:c.1027G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343486.1:p.Val343="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260950"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1362,
          "referenceAllele": "G",
          "start": 1361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001912",
      "geneNCBI_id": 1103,
      "geneSymbol": "CHAT",
      "hgvs": [
        "ENST00000351556.7:c.1027G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345878.3:p.Val343="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262785"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1190,
          "referenceAllele": "G",
          "start": 1189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001912",
      "geneNCBI_id": 1103,
      "geneSymbol": "CHAT",
      "hgvs": [
        "ENST00000395559.6:c.1027G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378926.2:p.Val343="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276757"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1604,
          "referenceAllele": "G",
          "start": 1603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001912",
      "geneNCBI_id": 1103,
      "geneSymbol": "CHAT",
      "hgvs": [
        "ENST00000395562.2:c.1135G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378929.2:p.Val379="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276759"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1604,
          "referenceAllele": "G",
          "start": 1603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001912",
      "geneNCBI_id": 1103,
      "geneSymbol": "CHAT",
      "hgvs": [
        "ENST00000466590.6:c.*1112G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473443.1:n.*1112G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS309923"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825854049",
      "coordinates": [
        {
          "allele": "G",
          "end": 1534,
          "referenceAllele": "G",
          "start": 1533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001912",
      "geneNCBI_id": 1103,
      "geneSymbol": "CHAT",
      "hgvs": [
        "NM_001142929.2:c.1027G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136401.2:p.Val343="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825854556",
      "coordinates": [
        {
          "allele": "G",
          "end": 1604,
          "referenceAllele": "G",
          "start": 1603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001912",
      "geneNCBI_id": 1103,
      "geneSymbol": "CHAT",
      "hgvs": [
        "NM_001142933.2:c.1135G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136405.2:p.Val379="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825855068",
      "coordinates": [
        {
          "allele": "G",
          "end": 1604,
          "referenceAllele": "G",
          "start": 1603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001912",
      "geneNCBI_id": 1103,
      "geneSymbol": "CHAT",
      "hgvs": [
        "NM_001142934.2:c.1027G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001136406.2:p.Val343="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712629"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829938557",
      "coordinates": [
        {
          "allele": "G",
          "end": 1534,
          "referenceAllele": "G",
          "start": 1533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001912",
      "geneNCBI_id": 1103,
      "geneSymbol": "CHAT",
      "hgvs": [
        "NM_020549.5:c.1381G="
      ],
      "proteinEffect": {
        "hgvs": "NP_065574.4:p.Val461="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728446",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000337653.7:c.1381G="
          },
          "RefSeq": {
            "hgvs": "NM_020549.5:c.1381G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000337103.2:p.Val461="
          },
          "RefSeq": {
            "hgvs": "NP_065574.4:p.Val461="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829959934",
      "coordinates": [
        {
          "allele": "G",
          "end": 1200,
          "referenceAllele": "G",
          "start": 1199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001912",
      "geneNCBI_id": 1103,
      "geneSymbol": "CHAT",
      "hgvs": [
        "NM_020984.4:c.1027G="
      ],
      "proteinEffect": {
        "hgvs": "NP_066264.4:p.Val343="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728494"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829960530",
      "coordinates": [
        {
          "allele": "G",
          "end": 1372,
          "referenceAllele": "G",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001912",
      "geneNCBI_id": 1103,
      "geneSymbol": "CHAT",
      "hgvs": [
        "NM_020985.4:c.1027G="
      ],
      "proteinEffect": {
        "hgvs": "NP_066265.4:p.Val343="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728495"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829961364",
      "coordinates": [
        {
          "allele": "G",
          "end": 1200,
          "referenceAllele": "G",
          "start": 1199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001912",
      "geneNCBI_id": 1103,
      "geneSymbol": "CHAT",
      "hgvs": [
        "NM_020986.4:c.1027G="
      ],
      "proteinEffect": {
        "hgvs": "NP_066266.4:p.Val343="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728496"
    }
  ],
  "type": "nucleotide"
}