{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA404527578",
  "communityStandardTitle": [
    "NM_000435.3(NOTCH3):c.1363T>A (p.Cys455Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=983131[alleleid]",
        "alleleId": 983131,
        "preferredName": "NM_000435.3(NOTCH3):c.1363T>A (p.Cys455Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/994823",
        "RCV": [
          "RCV001288519"
        ],
        "variationId": 994823
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.15299815A>T?assembly=hg19",
        "id": "chr19:g.15299815A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.15189004A>T?assembly=hg38",
        "id": "chr19:g.15189004A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28933698",
        "rs": 28933698
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 15189004,
          "referenceAllele": "A",
          "start": 15189003
        }
      ],
      "hgvs": [
        "NC_000019.10:g.15189004A>T",
        "CM000681.2:g.15189004A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 15299815,
          "referenceAllele": "A",
          "start": 15299814
        }
      ],
      "hgvs": [
        "NC_000019.9:g.15299815A>T",
        "CM000681.1:g.15299815A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 15160815,
          "referenceAllele": "A",
          "start": 15160814
        }
      ],
      "hgvs": [
        "NC_000019.8:g.15160815A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16978,
          "referenceAllele": "T",
          "start": 16977
        }
      ],
      "hgvs": [
        "NG_009819.1:g.16978T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001656"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1453,
          "referenceAllele": "T",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007883",
      "geneNCBI_id": 4854,
      "geneSymbol": "NOTCH3",
      "hgvs": [
        "ENST00000263388.7:c.1363T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263388.1:p.Cys455Ser",
        "hgvsWellDefined": "ENSP00000263388.1:p.Cys455Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742512",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263388.7:c.1363T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000435.3:c.1363T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263388.1:p.Cys455Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000426.2:p.Cys455Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1439,
          "referenceAllele": "T",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007883",
      "geneNCBI_id": 4854,
      "geneSymbol": "NOTCH3",
      "hgvs": [
        "ENST00000263388.6:c.1363T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263388.1:p.Cys455Ser",
        "hgvsWellDefined": "ENSP00000263388.1:p.Cys455Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251264"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1360,
          "referenceAllele": "T",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007883",
      "geneNCBI_id": 4854,
      "geneSymbol": "NOTCH3",
      "hgvs": [
        "ENST00000601011.1:c.1360T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473138.1:p.Cys454Ser",
        "hgvsWellDefined": "ENSP00000473138.1:p.Cys454Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397542"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139691114",
      "coordinates": [
        {
          "allele": "A",
          "end": 1439,
          "referenceAllele": "T",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007883",
      "geneNCBI_id": 4854,
      "geneSymbol": "NOTCH3",
      "hgvs": [
        "NM_000435.2:c.1363T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000426.2:p.Cys455Ser",
        "hgvsWellDefined": "NP_000426.2:p.Cys455Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006497"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1420,
          "referenceAllele": "T",
          "start": 1419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007883",
      "geneNCBI_id": 4854,
      "geneSymbol": "NOTCH3",
      "hgvs": [
        "XM_005259924.3:c.1363T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259981.1:p.Cys455Ser",
        "hgvsWellDefined": "XP_005259981.1:p.Cys455Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1378,
          "referenceAllele": "T",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007883",
      "geneNCBI_id": 4854,
      "geneSymbol": "NOTCH3",
      "hgvs": [
        "XM_005259924.4:c.1363T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259981.1:p.Cys455Ser",
        "hgvsWellDefined": "XP_005259981.1:p.Cys455Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139691114",
      "coordinates": [
        {
          "allele": "A",
          "end": 1453,
          "referenceAllele": "T",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007883",
      "geneNCBI_id": 4854,
      "geneSymbol": "NOTCH3",
      "hgvs": [
        "NM_000435.3:c.1363T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000426.2:p.Cys455Ser",
        "hgvsWellDefined": "NP_000426.2:p.Cys455Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662442",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263388.7:c.1363T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000435.3:c.1363T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263388.1:p.Cys455Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000426.2:p.Cys455Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}