{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA467850734",
  "communityStandardTitle": [
    "NM_007327.4(GRIN1):c.855G>C (p.Val285=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.140051376G>C?assembly=hg19",
        "id": "chr9:g.140051376G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 137156924,
          "referenceAllele": "G",
          "start": 137156923
        }
      ],
      "hgvs": [
        "NC_000009.12:g.137156924G>C",
        "CM000671.2:g.137156924G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 140051376,
          "referenceAllele": "G",
          "start": 140051375
        }
      ],
      "hgvs": [
        "NC_000009.11:g.140051376G>C",
        "CM000671.1:g.140051376G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 139171197,
          "referenceAllele": "G",
          "start": 139171196
        }
      ],
      "hgvs": [
        "NC_000009.10:g.139171197G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 22768,
          "referenceAllele": "G",
          "start": 22767
        }
      ],
      "hgvs": [
        "NG_011507.1:g.22768G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001774"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1251,
          "referenceAllele": "G",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "ENST00000371553.8:c.918G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360608.3:p.Val306="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904511"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2059,
          "referenceAllele": "G",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "ENST00000371560.5:c.918G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360615.3:p.Val306="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904512"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1188,
          "referenceAllele": "G",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "ENST00000371561.8:c.855G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360616.3:p.Val285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750813",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371561.8:c.855G>C"
          },
          "RefSeq": {
            "hgvs": "NM_007327.4:c.855G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360616.3:p.Val285="
          },
          "RefSeq": {
            "hgvs": "NP_015566.1:p.Val285="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 285,
          "referenceAllele": "G",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "ENST00000675295.1:n.285G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2365,
          "referenceAllele": "G",
          "start": 2364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "ENST00000676396.1:n.2365G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776083"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1213,
          "referenceAllele": "G",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "ENST00000350902.9:c.901G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316915.9:p.Gly301Arg",
        "hgvsWellDefined": "ENSP00000316915.9:p.Gly301Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262729"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 924,
          "referenceAllele": "G",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "ENST00000371546.8:c.918G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360601.4:p.Val306="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268638"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "ENST00000371550.8:c.855G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360605.4:p.Val285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268639"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 924,
          "referenceAllele": "G",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "ENST00000371553.7:c.918G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360608.3:p.Val306="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268641"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 924,
          "referenceAllele": "G",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "ENST00000371555.8:c.918G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360610.4:p.Val306="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268643"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 861,
          "referenceAllele": "G",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "ENST00000371559.8:c.855G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360614.4:p.Val285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 924,
          "referenceAllele": "G",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "ENST00000371560.4:c.918G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360615.3:p.Val306="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268646"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1952,
          "referenceAllele": "G",
          "start": 1951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "ENST00000371561.7:c.855G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360616.3:p.Val285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268647"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 932,
          "referenceAllele": "G",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "ENST00000471122.5:n.932G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313394"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825232476",
      "coordinates": [
        {
          "allele": "C",
          "end": 1185,
          "referenceAllele": "G",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "NM_000832.6:c.855G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000823.4:p.Val285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006861"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826154755",
      "coordinates": [
        {
          "allele": "C",
          "end": 1248,
          "referenceAllele": "G",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "NM_001185090.1:c.918G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001172019.1:p.Val306="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016107"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826155349",
      "coordinates": [
        {
          "allele": "C",
          "end": 1248,
          "referenceAllele": "G",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "NM_001185091.1:c.918G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001172020.1:p.Val306="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016108"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829715100",
      "coordinates": [
        {
          "allele": "C",
          "end": 1185,
          "referenceAllele": "G",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "NM_007327.3:c.855G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_015566.1:p.Val285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032230"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829976654",
      "coordinates": [
        {
          "allele": "C",
          "end": 1185,
          "referenceAllele": "G",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "NM_021569.3:c.855G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_067544.1:p.Val285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036966"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1189,
          "referenceAllele": "G",
          "start": 1188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "XM_005266071.2:c.855G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266128.1:p.Val285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064908"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1252,
          "referenceAllele": "G",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "XM_005266072.2:c.918G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266129.1:p.Val306="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064909"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1293,
          "referenceAllele": "G",
          "start": 1292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "XM_005266073.3:c.918G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266130.1:p.Val306="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064910"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1252,
          "referenceAllele": "G",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "XM_011518583.1:c.918G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516885.1:p.Val306="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085757"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 855,
          "referenceAllele": "G",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "XM_005266071.3:c.855G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266128.1:p.Val285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536166"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1252,
          "referenceAllele": "G",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "XM_005266072.3:c.918G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266129.1:p.Val306="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1313,
          "referenceAllele": "G",
          "start": 1312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "XM_005266073.4:c.918G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266130.1:p.Val306="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1252,
          "referenceAllele": "G",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "XM_011518583.2:c.918G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516885.1:p.Val306="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544992"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829715100",
      "coordinates": [
        {
          "allele": "C",
          "end": 1188,
          "referenceAllele": "G",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "NM_007327.4:c.855G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_015566.1:p.Val285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667853",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371561.8:c.855G>C"
          },
          "RefSeq": {
            "hgvs": "NM_007327.4:c.855G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360616.3:p.Val285="
          },
          "RefSeq": {
            "hgvs": "NP_015566.1:p.Val285="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825232476",
      "coordinates": [
        {
          "allele": "C",
          "end": 1188,
          "referenceAllele": "G",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "NM_000832.7:c.855G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000823.4:p.Val285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674961"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826154755",
      "coordinates": [
        {
          "allele": "C",
          "end": 1251,
          "referenceAllele": "G",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "NM_001185090.2:c.918G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001172019.1:p.Val306="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679073"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826155349",
      "coordinates": [
        {
          "allele": "C",
          "end": 1251,
          "referenceAllele": "G",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "NM_001185091.2:c.918G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001172020.1:p.Val306="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679074"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829976654",
      "coordinates": [
        {
          "allele": "C",
          "end": 1188,
          "referenceAllele": "G",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004584",
      "geneNCBI_id": 2902,
      "geneSymbol": "GRIN1",
      "hgvs": [
        "NM_021569.4:c.855G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_067544.1:p.Val285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698416"
    }
  ],
  "type": "nucleotide"
}