{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394708470",
  "communityStandardTitle": [
    "NM_001134407.3(GRIN2A):c.3174C>G (p.His1058Gln)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.9858227G>C?assembly=hg19",
        "id": "chr16:g.9858227G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.9764370G>C?assembly=hg38",
        "id": "chr16:g.9764370G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 9764370,
          "referenceAllele": "G",
          "start": 9764369
        }
      ],
      "hgvs": [
        "NC_000016.10:g.9764370G>C",
        "CM000678.2:g.9764370G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 9858227,
          "referenceAllele": "G",
          "start": 9858226
        }
      ],
      "hgvs": [
        "NC_000016.9:g.9858227G>C",
        "CM000678.1:g.9858227G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 9765728,
          "referenceAllele": "G",
          "start": 9765727
        }
      ],
      "hgvs": [
        "NC_000016.8:g.9765728G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 423385,
          "referenceAllele": "C",
          "start": 423384
        }
      ],
      "hgvs": [
        "NG_011812.1:g.423385C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001995"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 423385,
          "referenceAllele": "C",
          "start": 423384
        }
      ],
      "hgvs": [
        "NG_011812.2:g.423385C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673563"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3744,
          "referenceAllele": "C",
          "start": 3743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000330684.4:c.3174C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332549.3:p.His1058Gln",
        "hgvsWellDefined": "ENSP00000332549.3:p.His1058Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747087",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000330684.4:c.3174C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001134407.3:c.3174C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332549.3:p.His1058Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001127879.1:p.His1058Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2844,
          "referenceAllele": "C",
          "start": 2843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000535259.6:c.2703C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441572.3:p.His901Gln",
        "hgvsWellDefined": "ENSP00000441572.3:p.His901Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759434"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2767,
          "referenceAllele": "C",
          "start": 2766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000636273.2:n.2767C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3009,
          "referenceAllele": "C",
          "start": 3008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000674742.1:c.2703C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502200.1:p.His901Gln",
        "hgvsWellDefined": "ENSP00000502200.1:p.His901Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774663"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3388,
          "referenceAllele": "C",
          "start": 3387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000675398.1:c.*544C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502752.1:n.*544C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3722,
          "referenceAllele": "C",
          "start": 3721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000330684.3:c.3174C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332549.3:p.His1058Gln",
        "hgvsWellDefined": "ENSP00000332549.3:p.His1058Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259276"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3484,
          "referenceAllele": "C",
          "start": 3483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000396573.6:c.3174C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379818.2:p.His1058Gln",
        "hgvsWellDefined": "ENSP00000379818.2:p.His1058Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277333"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2763,
          "referenceAllele": "C",
          "start": 2762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000396575.6:c.2763C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379820.3:p.His921Gln",
        "hgvsWellDefined": "ENSP00000379820.3:p.His921Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277334"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2813,
          "referenceAllele": "C",
          "start": 2812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000461292.3:n.2813C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305835"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2767,
          "referenceAllele": "C",
          "start": 2766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000535259.5:c.2763C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441572.2:p.His921Gln",
        "hgvsWellDefined": "ENSP00000441572.2:p.His921Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359621"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3203,
          "referenceAllele": "C",
          "start": 3202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "ENST00000562109.5:c.3174C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454998.1:p.His1058Gln",
        "hgvsWellDefined": "ENSP00000454998.1:p.His1058Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376568"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645404456",
      "coordinates": [
        {
          "allele": "G",
          "end": 3484,
          "referenceAllele": "C",
          "start": 3483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_000833.4:c.3174C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000824.1:p.His1058Gln",
        "hgvsWellDefined": "NP_000824.1:p.His1058Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825779170",
      "coordinates": [
        {
          "allele": "G",
          "end": 3722,
          "referenceAllele": "C",
          "start": 3721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_001134407.2:c.3174C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001127879.1:p.His1058Gln",
        "hgvsWellDefined": "NP_001127879.1:p.His1058Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012230"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915976232",
      "coordinates": [
        {
          "allele": "G",
          "end": 3383,
          "referenceAllele": "C",
          "start": 3382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_001134408.2:c.3174C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001127880.1:p.His1058Gln",
        "hgvsWellDefined": "NP_001127880.1:p.His1058Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3030,
          "referenceAllele": "C",
          "start": 3029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522456.1:c.3015C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520758.1:p.His1005Gln",
        "hgvsWellDefined": "XP_011520758.1:p.His1005Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089607"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2926,
          "referenceAllele": "C",
          "start": 2925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522457.1:c.2916C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520759.1:p.His972Gln",
        "hgvsWellDefined": "XP_011520759.1:p.His972Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089608"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2984,
          "referenceAllele": "C",
          "start": 2983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522458.1:c.2703C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520760.1:p.His901Gln",
        "hgvsWellDefined": "XP_011520760.1:p.His901Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089609"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3128,
          "referenceAllele": "C",
          "start": 3127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522459.1:c.2703C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520761.1:p.His901Gln",
        "hgvsWellDefined": "XP_011520761.1:p.His901Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089610"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3124,
          "referenceAllele": "C",
          "start": 3123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522460.1:c.2703C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520762.1:p.His901Gln",
        "hgvsWellDefined": "XP_011520762.1:p.His901Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4094,
          "referenceAllele": "C",
          "start": 4093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522461.1:c.3174C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520763.1:p.His1058Gln",
        "hgvsWellDefined": "XP_011520763.1:p.His1058Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089612"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2968,
          "referenceAllele": "C",
          "start": 2967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522458.3:c.2703C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520760.1:p.His901Gln",
        "hgvsWellDefined": "XP_011520760.1:p.His901Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546597"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3658,
          "referenceAllele": "C",
          "start": 3657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_011522461.3:c.3174C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520763.1:p.His1058Gln",
        "hgvsWellDefined": "XP_011520763.1:p.His1058Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3595,
          "referenceAllele": "C",
          "start": 3594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_017023172.1:c.3330C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878661.1:p.His1110Gln",
        "hgvsWellDefined": "XP_016878661.1:p.His1110Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573976"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3595,
          "referenceAllele": "C",
          "start": 3594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "XM_017023173.1:c.3330C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878662.1:p.His1110Gln",
        "hgvsWellDefined": "XP_016878662.1:p.His1110Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573977"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825779170",
      "coordinates": [
        {
          "allele": "G",
          "end": 3744,
          "referenceAllele": "C",
          "start": 3743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_001134407.3:c.3174C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001127879.1:p.His1058Gln",
        "hgvsWellDefined": "NP_001127879.1:p.His1058Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000330684.4:c.3174C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001134407.3:c.3174C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332549.3:p.His1058Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001127879.1:p.His1058Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645404456",
      "coordinates": [
        {
          "allele": "G",
          "end": 3638,
          "referenceAllele": "C",
          "start": 3637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004585",
      "geneNCBI_id": 2903,
      "geneSymbol": "GRIN2A",
      "hgvs": [
        "NM_000833.5:c.3174C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000824.1:p.His1058Gln",
        "hgvsWellDefined": "NP_000824.1:p.His1058Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674962"
    }
  ],
  "type": "nucleotide"
}