{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA12170239",
  "communityStandardTitle": [
    "NM_001882.4(CRHBP):c.812-199G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.76264354G>A?assembly=hg19",
        "id": "chr5:g.76264354G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.76968529G>A?assembly=hg38",
        "id": "chr5:g.76968529G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10062367",
        "rs": 10062367
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-76264354-G-A?dataset=gnomad_r2_1",
        "id": "5-76264354-G-A",
        "variant": "5:76264354 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-76968529-G-A?dataset=gnomad_r3",
        "id": "5-76968529-G-A",
        "variant": "5:76968529 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-76968529-G-A?dataset=gnomad_r4",
        "id": "5-76968529-G-A",
        "variant": "5:76968529 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 76968529,
          "referenceAllele": "G",
          "start": 76968528
        }
      ],
      "hgvs": [
        "NC_000005.10:g.76968529G>A",
        "CM000667.2:g.76968529G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 76264354,
          "referenceAllele": "G",
          "start": 76264353
        }
      ],
      "hgvs": [
        "NC_000005.9:g.76264354G>A",
        "CM000667.1:g.76264354G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 76300110,
          "referenceAllele": "G",
          "start": 76300109
        }
      ],
      "hgvs": [
        "NC_000005.8:g.76300110G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 901,
          "endIntronDirection": "-",
          "endIntronOffset": 198,
          "referenceAllele": "G",
          "start": 901,
          "startIntronDirection": "-",
          "startIntronOffset": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002356",
      "geneNCBI_id": 1393,
      "geneSymbol": "CRHBP",
      "hgvs": [
        "ENST00000274368.9:c.812-199G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000274368.4:n.812-199G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743341",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000274368.9:c.812-199G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001882.4:c.812-199G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000274368.4:n.812-199G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001873.2:n.812-199G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1233,
          "endIntronDirection": "-",
          "endIntronOffset": 198,
          "referenceAllele": "G",
          "start": 1233,
          "startIntronDirection": "-",
          "startIntronOffset": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002356",
      "geneNCBI_id": 1393,
      "geneSymbol": "CRHBP",
      "hgvs": [
        "ENST00000274368.8:c.812-199G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000274368.4:n.812-199G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 226,
          "endIntronDirection": "-",
          "endIntronOffset": 198,
          "referenceAllele": "G",
          "start": 226,
          "startIntronDirection": "-",
          "startIntronOffset": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002356",
      "geneNCBI_id": 1393,
      "geneSymbol": "CRHBP",
      "hgvs": [
        "ENST00000503763.1:n.227-199G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335993"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 311,
          "endIntronDirection": "+",
          "endIntronOffset": 5069,
          "referenceAllele": "G",
          "start": 311,
          "startIntronDirection": "+",
          "startIntronOffset": 5068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002356",
      "geneNCBI_id": 1393,
      "geneSymbol": "CRHBP",
      "hgvs": [
        "ENST00000514258.1:n.311+5069G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343793"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1091,
          "endIntronDirection": "-",
          "endIntronOffset": 198,
          "referenceAllele": "G",
          "start": 1091,
          "startIntronDirection": "-",
          "startIntronOffset": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002356",
      "geneNCBI_id": 1393,
      "geneSymbol": "CRHBP",
      "hgvs": [
        "NM_001882.3:c.812-199G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001873.2:n.812-199G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027209"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1111,
          "endIntronDirection": "+",
          "endIntronOffset": 5069,
          "referenceAllele": "G",
          "start": 1111,
          "startIntronDirection": "+",
          "startIntronOffset": 5068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002356",
      "geneNCBI_id": 1393,
      "geneSymbol": "CRHBP",
      "hgvs": [
        "XR_948235.1:n.1111+5069G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141813"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1091,
          "endIntronDirection": "+",
          "endIntronOffset": 5069,
          "referenceAllele": "G",
          "start": 1091,
          "startIntronDirection": "+",
          "startIntronOffset": 5068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002356",
      "geneNCBI_id": 1393,
      "geneSymbol": "CRHBP",
      "hgvs": [
        "XR_948235.3:n.1091+5069G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614970"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 901,
          "endIntronDirection": "-",
          "endIntronOffset": 198,
          "referenceAllele": "G",
          "start": 901,
          "startIntronDirection": "-",
          "startIntronOffset": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002356",
      "geneNCBI_id": 1393,
      "geneSymbol": "CRHBP",
      "hgvs": [
        "NM_001882.4:c.812-199G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001873.2:n.812-199G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665226",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000274368.9:c.812-199G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001882.4:c.812-199G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000274368.4:n.812-199G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001873.2:n.812-199G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}