{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342170",
  "communityStandardTitle": [
    "NM_015166.4(MLC1):c.178-10T>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34374[alleleid]",
        "alleleId": 34374,
        "preferredName": "NM_015166.4(MLC1):c.178-10T>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21522",
        "RCV": [
          "RCV000020712",
          "RCV000626926",
          "RCV002513148"
        ],
        "variationId": 21522
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.50521612A>T?assembly=hg19",
        "id": "chr22:g.50521612A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.50083183A>T?assembly=hg38",
        "id": "chr22:g.50083183A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80358243",
        "rs": 80358243
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-50521612-A-T?dataset=gnomad_r2_1",
        "id": "22-50521612-A-T",
        "variant": "22:50521612 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-50083183-A-T?dataset=gnomad_r4",
        "id": "22-50083183-A-T",
        "variant": "22:50083183 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 50083183,
          "referenceAllele": "A",
          "start": 50083182
        }
      ],
      "hgvs": [
        "NC_000022.11:g.50083183A>T",
        "CM000684.2:g.50083183A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 50521612,
          "referenceAllele": "A",
          "start": 50521611
        }
      ],
      "hgvs": [
        "NC_000022.10:g.50521612A>T",
        "CM000684.1:g.50521612A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 48863739,
          "referenceAllele": "A",
          "start": 48863738
        }
      ],
      "hgvs": [
        "NC_000022.9:g.48863739A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7747,
          "referenceAllele": "T",
          "start": 7746
        }
      ],
      "hgvs": [
        "NG_009162.1:g.7747T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001456"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 308,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 308,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "ENST00000311597.10:c.178-10T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310375.6:n.178-10T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745730",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311597.10:c.178-10T>A"
          },
          "RefSeq": {
            "hgvs": "NM_015166.4:c.178-10T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310375.6:n.178-10T>A"
          },
          "RefSeq": {
            "hgvs": "NP_055981.1:n.178-10T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 784,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 784,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "ENST00000311597.9:c.178-10T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000310375.5:n.178-10T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 452,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 452,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "ENST00000395876.6:c.178-10T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379216.2:n.178-10T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 266,
          "endIntronDirection": "+",
          "endIntronOffset": 1543,
          "referenceAllele": "T",
          "start": 266,
          "startIntronDirection": "+",
          "startIntronOffset": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "ENST00000442311.1:c.177+1543T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401385.1:n.177+1543T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296825"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 811,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 811,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "NM_015166.3:c.178-10T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055981.1:n.178-10T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033795"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 450,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 450,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "NM_139202.2:c.178-10T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_631941.1:n.178-10T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 572,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 572,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "XM_011530678.1:c.178-10T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528980.1:n.178-10T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 572,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 572,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "XR_430476.2:n.573-10T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118707"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 682,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 682,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "XM_011530678.2:c.178-10T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528980.1:n.178-10T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550062"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 239,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 239,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "XM_017028671.1:c.178-10T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884160.1:n.178-10T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578363"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 682,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 682,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "XR_001755180.2:n.683-10T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601040"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 450,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 450,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "XR_001755181.2:n.451-10T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 701,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 701,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "NM_001376472.1:c.178-10T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001363401.1:n.178-10T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 569,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 569,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "NM_001376473.1:c.178-10T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001363402.1:n.178-10T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694473"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 307,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 307,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "NM_001376474.1:c.178-10T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001363403.1:n.178-10T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694474"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 465,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 465,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "NM_001376475.1:c.178-10T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001363404.1:n.178-10T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694475"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 411,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 411,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "NM_001376476.1:c.178-10T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001363405.1:n.178-10T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694476"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 701,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 701,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "NM_001376477.1:c.178-10T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001363406.1:n.178-10T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694477"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 524,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 524,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "NM_001376478.1:c.178-10T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001363407.1:n.178-10T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694478"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 308,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 308,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "NM_001376479.1:c.178-10T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001363408.1:n.178-10T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694479"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 308,
          "endIntronDirection": "+",
          "endIntronOffset": 1543,
          "referenceAllele": "T",
          "start": 308,
          "startIntronDirection": "+",
          "startIntronOffset": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "NM_001376480.1:c.177+1543T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001363409.1:n.177+1543T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694480"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 308,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 308,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "NM_001376481.1:c.178-10T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001363410.1:n.178-10T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 308,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 308,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "NM_001376482.1:c.178-10T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001363411.1:n.178-10T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694482"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 524,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 524,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "NM_001376483.1:c.178-10T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001363412.1:n.178-10T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 72,
          "endIntronDirection": "-",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 72,
          "startIntronDirection": "-",
          "startIntronOffset": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "NM_001376484.1:c.-58-12T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001363413.1:n.-58-12T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS694484"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 308,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 308,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "NM_015166.4:c.178-10T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055981.1:n.178-10T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697457",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311597.10:c.178-10T>A"
          },
          "RefSeq": {
            "hgvs": "NM_015166.4:c.178-10T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310375.6:n.178-10T>A"
          },
          "RefSeq": {
            "hgvs": "NP_055981.1:n.178-10T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 524,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 524,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "NM_139202.3:c.178-10T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_631941.1:n.178-10T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 524,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 524,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "NR_164811.1:n.525-10T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705895"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 308,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 308,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "NR_164812.1:n.309-10T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705896"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 701,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 701,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017082",
      "geneNCBI_id": 23209,
      "geneSymbol": "MLC1",
      "hgvs": [
        "NR_164813.1:n.702-10T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705897"
    }
  ],
  "type": "nucleotide"
}