{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA58333629",
  "communityStandardTitle": [
    "NM_015702.3(MMADHC):c.10-179T>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1183006[alleleid]",
        "alleleId": 1183006,
        "preferredName": "NM_015702.3(MMADHC):c.10-179T>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1193578",
        "RCV": [
          "RCV001556020"
        ],
        "variationId": 1193578
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.150438964A>T?assembly=hg19",
        "id": "chr2:g.150438964A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.149582450A>T?assembly=hg38",
        "id": "chr2:g.149582450A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/114456447",
        "rs": 114456447
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-150438964-A-T?dataset=gnomad_r2_1",
        "id": "2-150438964-A-T",
        "variant": "2:150438964 A / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-149582450-A-T?dataset=gnomad_r3",
        "id": "2-149582450-A-T",
        "variant": "2:149582450 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-149582450-A-T?dataset=gnomad_r4",
        "id": "2-149582450-A-T",
        "variant": "2:149582450 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 149582450,
          "referenceAllele": "A",
          "start": 149582449
        }
      ],
      "hgvs": [
        "NC_000002.12:g.149582450A>T",
        "CM000664.2:g.149582450A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 150438964,
          "referenceAllele": "A",
          "start": 150438963
        }
      ],
      "hgvs": [
        "NC_000002.11:g.150438964A>T",
        "CM000664.1:g.150438964A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 150147210,
          "referenceAllele": "A",
          "start": 150147209
        }
      ],
      "hgvs": [
        "NC_000002.10:g.150147210A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10367,
          "referenceAllele": "T",
          "start": 10366
        }
      ],
      "hgvs": [
        "NG_009189.1:g.10367T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001467"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 173,
          "endIntronDirection": "-",
          "endIntronOffset": 178,
          "referenceAllele": "T",
          "start": 173,
          "startIntronDirection": "-",
          "startIntronOffset": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025221",
      "geneNCBI_id": 27249,
      "geneSymbol": "MMADHC",
      "hgvs": [
        "ENST00000303319.10:c.10-179T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301920.5:n.10-179T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745021",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303319.10:c.10-179T>A"
          },
          "RefSeq": {
            "hgvs": "NM_015702.3:c.10-179T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301920.5:n.10-179T>A"
          },
          "RefSeq": {
            "hgvs": "NP_056517.1:n.10-179T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 214,
          "endIntronDirection": "-",
          "endIntronOffset": 178,
          "referenceAllele": "T",
          "start": 214,
          "startIntronDirection": "-",
          "startIntronOffset": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025221",
      "geneNCBI_id": 27249,
      "geneSymbol": "MMADHC",
      "hgvs": [
        "ENST00000303319.9:c.10-179T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301920.5:n.10-179T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 176,
          "endIntronDirection": "-",
          "endIntronOffset": 178,
          "referenceAllele": "T",
          "start": 176,
          "startIntronDirection": "-",
          "startIntronOffset": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025221",
      "geneNCBI_id": 27249,
      "geneSymbol": "MMADHC",
      "hgvs": [
        "ENST00000422782.2:c.10-179T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408331.2:n.10-179T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 514,
          "endIntronDirection": "-",
          "endIntronOffset": 178,
          "referenceAllele": "T",
          "start": 514,
          "startIntronDirection": "-",
          "startIntronOffset": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025221",
      "geneNCBI_id": 27249,
      "geneSymbol": "MMADHC",
      "hgvs": [
        "ENST00000428879.5:c.10-179T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389060.1:n.10-179T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290410"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 214,
          "endIntronDirection": "-",
          "endIntronOffset": 178,
          "referenceAllele": "T",
          "start": 214,
          "startIntronDirection": "-",
          "startIntronOffset": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025221",
      "geneNCBI_id": 27249,
      "geneSymbol": "MMADHC",
      "hgvs": [
        "NM_015702.2:c.10-179T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056517.1:n.10-179T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034207"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 173,
          "endIntronDirection": "-",
          "endIntronOffset": 178,
          "referenceAllele": "T",
          "start": 173,
          "startIntronDirection": "-",
          "startIntronOffset": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025221",
      "geneNCBI_id": 27249,
      "geneSymbol": "MMADHC",
      "hgvs": [
        "NM_015702.3:c.10-179T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056517.1:n.10-179T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668857",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303319.10:c.10-179T>A"
          },
          "RefSeq": {
            "hgvs": "NM_015702.3:c.10-179T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301920.5:n.10-179T>A"
          },
          "RefSeq": {
            "hgvs": "NP_056517.1:n.10-179T>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}