{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412992096",
  "communityStandardTitle": [
    "NM_001378477.3(NYX):c.1003T>G (p.Cys335Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=800646[alleleid]",
        "alleleId": 800646,
        "preferredName": "NM_001378477.3(NYX):c.1003T>G (p.Cys335Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/812360",
        "RCV": [
          "RCV001003101"
        ],
        "variationId": 812360
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.41333724T>G?assembly=hg19",
        "id": "chrX:g.41333724T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.41474471T>G?assembly=hg38",
        "id": "chrX:g.41474471T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1602181006",
        "rs": 1602181006
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 41474471,
          "referenceAllele": "T",
          "start": 41474470
        }
      ],
      "hgvs": [
        "NC_000023.11:g.41474471T>G",
        "CM000685.2:g.41474471T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 41333724,
          "referenceAllele": "T",
          "start": 41333723
        }
      ],
      "hgvs": [
        "NC_000023.10:g.41333724T>G",
        "CM000685.1:g.41333724T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 41218668,
          "referenceAllele": "T",
          "start": 41218667
        }
      ],
      "hgvs": [
        "NC_000023.9:g.41218668T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32012,
          "referenceAllele": "T",
          "start": 32011
        }
      ],
      "hgvs": [
        "NG_009112.1:g.32012T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001445"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1474,
          "referenceAllele": "T",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008082",
      "geneNCBI_id": 60506,
      "geneSymbol": "NYX",
      "hgvs": [
        "ENST00000342595.3:c.1003T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340328.3:p.Cys335Gly",
        "hgvsWellDefined": "ENSP00000340328.3:p.Cys335Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824021"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1233,
          "referenceAllele": "T",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008082",
      "geneNCBI_id": 60506,
      "geneSymbol": "NYX",
      "hgvs": [
        "ENST00000378220.3:c.1003T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367465.2:p.Cys335Gly",
        "hgvsWellDefined": "ENSP00000367465.2:p.Cys335Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824362",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378220.3:c.1003T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001378477.3:c.1003T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367465.2:p.Cys335Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001365406.2:p.Cys335Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1233,
          "referenceAllele": "T",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008082",
      "geneNCBI_id": 60506,
      "geneSymbol": "NYX",
      "hgvs": [
        "ENST00000378220.2:c.1018T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367465.1:p.Cys340Gly",
        "hgvsWellDefined": "ENSP00000367465.1:p.Cys340Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752053"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1474,
          "referenceAllele": "T",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008082",
      "geneNCBI_id": 60506,
      "geneSymbol": "NYX",
      "hgvs": [
        "ENST00000342595.2:c.1018T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340328.2:p.Cys340Gly",
        "hgvsWellDefined": "ENSP00000340328.2:p.Cys340Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261586"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1116,
          "referenceAllele": "T",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008082",
      "geneNCBI_id": 60506,
      "geneSymbol": "NYX",
      "hgvs": [
        "ENST00000378220.1:c.1018T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367465.1:p.Cys340Gly",
        "hgvsWellDefined": "ENSP00000367465.1:p.Cys340Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271941"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916068157",
      "coordinates": [
        {
          "allele": "G",
          "end": 1448,
          "referenceAllele": "T",
          "start": 1447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008082",
      "geneNCBI_id": 60506,
      "geneSymbol": "NYX",
      "hgvs": [
        "NM_022567.2:c.1018T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_072089.1:p.Cys340Gly",
        "hgvsWellDefined": "NP_072089.1:p.Cys340Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037372"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1186,
          "referenceAllele": "T",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008082",
      "geneNCBI_id": 60506,
      "geneSymbol": "NYX",
      "hgvs": [
        "XM_005272632.2:c.1018T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272689.1:p.Cys340Gly",
        "hgvsWellDefined": "XP_005272689.1:p.Cys340Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067315"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1116,
          "referenceAllele": "T",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008082",
      "geneNCBI_id": 60506,
      "geneSymbol": "NYX",
      "hgvs": [
        "XM_017029709.1:c.1018T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885198.1:p.Cys340Gly",
        "hgvsWellDefined": "XP_016885198.1:p.Cys340Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828780917",
      "coordinates": [
        {
          "allele": "G",
          "end": 1233,
          "referenceAllele": "T",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008082",
      "geneNCBI_id": 60506,
      "geneSymbol": "NYX",
      "hgvs": [
        "NM_001378477.3:c.1003T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365406.2:p.Cys335Gly",
        "hgvsWellDefined": "NP_001365406.2:p.Cys335Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721726",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378220.3:c.1003T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001378477.3:c.1003T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367465.2:p.Cys335Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001365406.2:p.Cys335Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830008133",
      "coordinates": [
        {
          "allele": "G",
          "end": 1565,
          "referenceAllele": "T",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008082",
      "geneNCBI_id": 60506,
      "geneSymbol": "NYX",
      "hgvs": [
        "NM_022567.3:c.1003T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_072089.2:p.Cys335Gly",
        "hgvsWellDefined": "NP_072089.2:p.Cys335Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728589"
    }
  ],
  "type": "nucleotide"
}