{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA290109636",
  "communityStandardTitle": [
    "NM_001004334.4(GPR179):c.958C>T (p.Arg320Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1965416[alleleid]",
        "alleleId": 1965416,
        "preferredName": "NM_001004334.4(GPR179):c.958C>T (p.Arg320Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1907776",
        "RCV": [
          "RCV002581055"
        ],
        "variationId": 1907776
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.38337666G>A?assembly=hg38",
        "id": "chr17:g.38337666G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/768587459",
        "rs": 768587459
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-38337666-G-A?dataset=gnomad_r3",
        "id": "17-38337666-G-A",
        "variant": "17:38337666 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-38337666-G-A?dataset=gnomad_r4",
        "id": "17-38337666-G-A",
        "variant": "17:38337666 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 38337666,
          "referenceAllele": "G",
          "start": 38337665
        }
      ],
      "hgvs": [
        "NC_000017.11:g.38337666G>A",
        "CM000679.2:g.38337666G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 33747075,
          "referenceAllele": "G",
          "start": 33747074
        }
      ],
      "hgvs": [
        "NC_000017.9:g.33747075G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11145,
          "referenceAllele": "C",
          "start": 11144
        }
      ],
      "hgvs": [
        "NG_032655.2:g.11145C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005183"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1125,
          "referenceAllele": "C",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031371",
      "geneNCBI_id": 440435,
      "geneSymbol": "GPR179",
      "hgvs": [
        "ENST00000616987.5:c.958C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483469.2:p.Arg320Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762091",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000616987.5:c.958C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001004334.4:c.958C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000483469.2:p.Arg320Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001004334.3:p.Arg320Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 979,
          "referenceAllele": "C",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031371",
      "geneNCBI_id": 440435,
      "geneSymbol": "GPR179",
      "hgvs": [
        "ENST00000616987.4:c.958C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483469.1:p.Arg320Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 982,
          "referenceAllele": "C",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031371",
      "geneNCBI_id": 440435,
      "geneSymbol": "GPR179",
      "hgvs": [
        "ENST00000621958.1:c.961C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480024.1:p.Arg321Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405502"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 979,
          "referenceAllele": "C",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031371",
      "geneNCBI_id": 440435,
      "geneSymbol": "GPR179",
      "hgvs": [
        "NM_001004334.3:c.958C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001004334.3:p.Arg320Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007447"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1125,
          "referenceAllele": "C",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031371",
      "geneNCBI_id": 440435,
      "geneSymbol": "GPR179",
      "hgvs": [
        "NM_001004334.4:c.958C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001004334.3:p.Arg320Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675148",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000616987.5:c.958C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001004334.4:c.958C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000483469.2:p.Arg320Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001004334.3:p.Arg320Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}