{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2580754794",
  "communityStandardTitle": [
    "NM_000603.5(NOS3):c.1821-62G>A"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2853796",
        "rs": 2853796
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-151006827-G-A?dataset=gnomad_r4",
        "id": "7-151006827-G-A",
        "variant": "7:151006827 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 151006827,
          "referenceAllele": "G",
          "start": 151006826
        }
      ],
      "hgvs": [
        "NC_000007.14:g.151006827G>A",
        "CM000669.2:g.151006827G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 150703915,
          "referenceAllele": "G",
          "start": 150703914
        }
      ],
      "hgvs": [
        "NC_000007.13:g.150703915G>A",
        "CM000669.1:g.150703915G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 150334848,
          "referenceAllele": "G",
          "start": 150334847
        }
      ],
      "hgvs": [
        "NC_000007.12:g.150334848G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20769,
          "referenceAllele": "G",
          "start": 20768
        }
      ],
      "hgvs": [
        "NG_011992.1:g.20769G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002092"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2155,
          "endIntronDirection": "-",
          "endIntronOffset": 61,
          "referenceAllele": "G",
          "start": 2155,
          "startIntronDirection": "-",
          "startIntronOffset": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "ENST00000297494.8:c.1821-62G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297494.3:n.1821-62G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744533",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297494.8:c.1821-62G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000603.5:c.1821-62G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297494.3:n.1821-62G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000594.2:n.1821-62G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2177,
          "endIntronDirection": "-",
          "endIntronOffset": 61,
          "referenceAllele": "G",
          "start": 2177,
          "startIntronDirection": "-",
          "startIntronOffset": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "ENST00000297494.7:c.1821-62G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297494.3:n.1821-62G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1547,
          "endIntronDirection": "-",
          "endIntronOffset": 61,
          "referenceAllele": "G",
          "start": 1547,
          "startIntronDirection": "-",
          "startIntronOffset": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "ENST00000461406.5:c.1203-62G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417143.1:n.1203-62G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2116,
          "endIntronDirection": "-",
          "endIntronOffset": 61,
          "referenceAllele": "G",
          "start": 2116,
          "startIntronDirection": "-",
          "startIntronOffset": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "NM_000603.4:c.1821-62G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000594.2:n.1821-62G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006656"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1873,
          "endIntronDirection": "-",
          "endIntronOffset": 61,
          "referenceAllele": "G",
          "start": 1873,
          "startIntronDirection": "-",
          "startIntronOffset": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "XM_006716002.2:c.1821-62G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716065.1:n.1821-62G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071455"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2155,
          "endIntronDirection": "-",
          "endIntronOffset": 61,
          "referenceAllele": "G",
          "start": 2155,
          "startIntronDirection": "-",
          "startIntronOffset": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "NM_000603.5:c.1821-62G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000594.2:n.1821-62G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662501",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297494.8:c.1821-62G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000603.5:c.1821-62G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297494.3:n.1821-62G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000594.2:n.1821-62G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}