{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2068188402",
  "communityStandardTitle": [
    "NM_014938.6(MLXIP):c.*4550G>C"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1043763",
        "rs": 1043763
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 122146362,
          "referenceAllele": "G",
          "start": 122146361
        }
      ],
      "hgvs": [
        "NC_000012.12:g.122146362G>C",
        "CM000674.2:g.122146362G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 122630909,
          "referenceAllele": "G",
          "start": 122630908
        }
      ],
      "hgvs": [
        "NC_000012.11:g.122630909G>C",
        "CM000674.1:g.122630909G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 121196862,
          "referenceAllele": "G",
          "start": 121196861
        }
      ],
      "hgvs": [
        "NC_000012.10:g.121196862G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 72635,
          "referenceAllele": "G",
          "start": 72634
        }
      ],
      "hgvs": [
        "NG_033995.1:g.72635G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005662"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7408,
          "referenceAllele": "G",
          "start": 7407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017055",
      "geneNCBI_id": 22877,
      "geneSymbol": "MLXIP",
      "hgvs": [
        "ENST00000319080.12:c.*4550G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312834.6:n.*4550G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746262",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000319080.12:c.*4550G>C"
          },
          "RefSeq": {
            "hgvs": "NM_014938.6:c.*4550G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000312834.6:n.*4550G>C"
          },
          "RefSeq": {
            "hgvs": "NP_055753.3:n.*4550G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7442,
          "referenceAllele": "G",
          "start": 7441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017055",
      "geneNCBI_id": 22877,
      "geneSymbol": "MLXIP",
      "hgvs": [
        "ENST00000319080.11:c.*4550G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000312834.6:n.*4550G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257615"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7436,
          "referenceAllele": "G",
          "start": 7435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017055",
      "geneNCBI_id": 22877,
      "geneSymbol": "MLXIP",
      "hgvs": [
        "NM_014938.5:c.*4550G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055753.3:n.*4550G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033605"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7535,
          "referenceAllele": "G",
          "start": 7534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017055",
      "geneNCBI_id": 22877,
      "geneSymbol": "MLXIP",
      "hgvs": [
        "XM_006719290.4:c.*4542G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719353.1:n.*4542G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539815"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7532,
          "referenceAllele": "G",
          "start": 7531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017055",
      "geneNCBI_id": 22877,
      "geneSymbol": "MLXIP",
      "hgvs": [
        "XM_006719291.4:c.*4542G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719354.1:n.*4542G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539816"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6594,
          "referenceAllele": "G",
          "start": 6593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017055",
      "geneNCBI_id": 22877,
      "geneSymbol": "MLXIP",
      "hgvs": [
        "XM_006719294.4:c.*4542G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719357.1:n.*4542G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539819"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7170,
          "referenceAllele": "G",
          "start": 7169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017055",
      "geneNCBI_id": 22877,
      "geneSymbol": "MLXIP",
      "hgvs": [
        "XR_001748624.2:n.7170G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7295,
          "referenceAllele": "G",
          "start": 7294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017055",
      "geneNCBI_id": 22877,
      "geneSymbol": "MLXIP",
      "hgvs": [
        "XR_944508.3:n.7295G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS613774"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7298,
          "referenceAllele": "G",
          "start": 7297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017055",
      "geneNCBI_id": 22877,
      "geneSymbol": "MLXIP",
      "hgvs": [
        "XR_944509.3:n.7298G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS613775"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7408,
          "referenceAllele": "G",
          "start": 7407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017055",
      "geneNCBI_id": 22877,
      "geneSymbol": "MLXIP",
      "hgvs": [
        "NM_014938.6:c.*4550G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055753.3:n.*4550G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668567",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000319080.12:c.*4550G>C"
          },
          "RefSeq": {
            "hgvs": "NM_014938.6:c.*4550G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000312834.6:n.*4550G>C"
          },
          "RefSeq": {
            "hgvs": "NP_055753.3:n.*4550G>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}