{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA385387303",
  "communityStandardTitle": [
    "NM_148897.3(SDR9C7):c.112G>C (p.Gly38Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.57327934C>G?assembly=hg19",
        "id": "chr12:g.57327934C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.56934150C>G?assembly=hg38",
        "id": "chr12:g.56934150C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/764593071",
        "rs": 764593071
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-56934150-C-G?dataset=gnomad_r3",
        "id": "12-56934150-C-G",
        "variant": "12:56934150 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-56934150-C-G?dataset=gnomad_r4",
        "id": "12-56934150-C-G",
        "variant": "12:56934150 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 56934150,
          "referenceAllele": "C",
          "start": 56934149
        }
      ],
      "hgvs": [
        "NC_000012.12:g.56934150C>G",
        "CM000674.2:g.56934150C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 57327934,
          "referenceAllele": "C",
          "start": 57327933
        }
      ],
      "hgvs": [
        "NC_000012.11:g.57327934C>G",
        "CM000674.1:g.57327934C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 55614201,
          "referenceAllele": "C",
          "start": 55614200
        }
      ],
      "hgvs": [
        "NC_000012.10:g.55614201C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 259,
          "referenceAllele": "G",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029958",
      "geneNCBI_id": 121214,
      "geneSymbol": "SDR9C7",
      "hgvs": [
        "ENST00000293502.2:c.112G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293502.1:p.Gly38Arg",
        "hgvsWellDefined": "ENSP00000293502.1:p.Gly38Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744170",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000293502.2:c.112G>C"
          },
          "RefSeq": {
            "hgvs": "NM_148897.3:c.112G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000293502.1:p.Gly38Arg"
          },
          "RefSeq": {
            "hgvs": "NP_683695.1:p.Gly38Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 256,
          "referenceAllele": "G",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029958",
      "geneNCBI_id": 121214,
      "geneSymbol": "SDR9C7",
      "hgvs": [
        "ENST00000293502.1:c.112G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293502.1:p.Gly38Arg",
        "hgvsWellDefined": "ENSP00000293502.1:p.Gly38Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253887"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913202989",
      "coordinates": [
        {
          "allele": "C",
          "end": 256,
          "referenceAllele": "G",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029958",
      "geneNCBI_id": 121214,
      "geneSymbol": "SDR9C7",
      "hgvs": [
        "NM_148897.2:c.112G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_683695.1:p.Gly38Arg",
        "hgvsWellDefined": "NP_683695.1:p.Gly38Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041664"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913202989",
      "coordinates": [
        {
          "allele": "C",
          "end": 259,
          "referenceAllele": "G",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029958",
      "geneNCBI_id": 121214,
      "geneSymbol": "SDR9C7",
      "hgvs": [
        "NM_148897.3:c.112G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_683695.1:p.Gly38Arg",
        "hgvsWellDefined": "NP_683695.1:p.Gly38Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672245",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000293502.2:c.112G>C"
          },
          "RefSeq": {
            "hgvs": "NM_148897.3:c.112G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000293502.1:p.Gly38Arg"
          },
          "RefSeq": {
            "hgvs": "NP_683695.1:p.Gly38Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}