{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA381699824",
  "communityStandardTitle": [
    "NM_018161.5(NADSYN1):c.220G>T (p.Val74Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.71169547G>T?assembly=hg19",
        "id": "chr11:g.71169547G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.71458501G>T?assembly=hg38",
        "id": "chr11:g.71458501G>T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-71458501-G-T?dataset=gnomad_r4",
        "id": "11-71458501-G-T",
        "variant": "11:71458501 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 71458501,
          "referenceAllele": "G",
          "start": 71458500
        }
      ],
      "hgvs": [
        "NC_000011.10:g.71458501G>T",
        "CM000673.2:g.71458501G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 71169547,
          "referenceAllele": "G",
          "start": 71169546
        }
      ],
      "hgvs": [
        "NC_000011.9:g.71169547G>T",
        "CM000673.1:g.71169547G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 70847195,
          "referenceAllele": "G",
          "start": 70847194
        }
      ],
      "hgvs": [
        "NC_000011.8:g.70847195G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 314,
          "referenceAllele": "G",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "ENST00000319023.7:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326424.2:p.Val74Leu",
        "hgvsWellDefined": "ENSP00000326424.2:p.Val74Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746259",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000319023.7:c.220G>T"
          },
          "RefSeq": {
            "hgvs": "NM_018161.5:c.220G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326424.2:p.Val74Leu"
          },
          "RefSeq": {
            "hgvs": "NP_060631.2:p.Val74Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 408,
          "referenceAllele": "G",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "ENST00000319023.6:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326424.2:p.Val74Leu",
        "hgvsWellDefined": "ENSP00000326424.2:p.Val74Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 286,
          "referenceAllele": "G",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "ENST00000524949.5:n.286G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351036"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 120,
          "referenceAllele": "G",
          "start": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "ENST00000525200.5:c.120G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351264"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 161,
          "referenceAllele": "G",
          "start": 160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "ENST00000525245.1:n.161G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 276,
          "referenceAllele": "G",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "ENST00000527538.5:n.276G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353224"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 300,
          "referenceAllele": "G",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "ENST00000528509.5:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433472.1:p.Val74Leu",
        "hgvsWellDefined": "ENSP00000433472.1:p.Val74Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 306,
          "referenceAllele": "G",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "ENST00000529120.5:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437220.1:p.Val74Leu",
        "hgvsWellDefined": "ENSP00000437220.1:p.Val74Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 286,
          "referenceAllele": "G",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "ENST00000533769.5:n.286G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358487"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 408,
          "referenceAllele": "G",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "ENST00000534634.5:n.408G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499284533",
      "coordinates": [
        {
          "allele": "T",
          "end": 346,
          "referenceAllele": "G",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "NM_018161.4:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060631.2:p.Val74Leu",
        "hgvsWellDefined": "NP_060631.2:p.Val74Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035504"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499284533",
      "coordinates": [
        {
          "allele": "T",
          "end": 314,
          "referenceAllele": "G",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "NM_018161.5:c.220G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060631.2:p.Val74Leu",
        "hgvsWellDefined": "NP_060631.2:p.Val74Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000319023.7:c.220G>T"
          },
          "RefSeq": {
            "hgvs": "NM_018161.5:c.220G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326424.2:p.Val74Leu"
          },
          "RefSeq": {
            "hgvs": "NP_060631.2:p.Val74Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}