{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6779079",
  "communityStandardTitle": [
    "NM_052845.4(MMAB):c.52C>A (p.Leu18Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1643626[alleleid]",
        "alleleId": 1643626,
        "preferredName": "NM_052845.4(MMAB):c.52C>A (p.Leu18Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1592164",
        "RCV": [
          "RCV002122178"
        ],
        "variationId": 1592164
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-110011234-G-T",
        "id": "12-110011234-G-T",
        "variant": "12:110011234 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.110011234G>T?assembly=hg19",
        "id": "chr12:g.110011234G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.109573429G>T?assembly=hg38",
        "id": "chr12:g.109573429G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374802787",
        "rs": 374802787
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-110011234-G-T?dataset=gnomad_r2_1",
        "id": "12-110011234-G-T",
        "variant": "12:110011234 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-109573429-G-T?dataset=gnomad_r3",
        "id": "12-109573429-G-T",
        "variant": "12:109573429 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-109573429-G-T?dataset=gnomad_r4",
        "id": "12-109573429-G-T",
        "variant": "12:109573429 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 109573429,
          "referenceAllele": "G",
          "start": 109573428
        }
      ],
      "hgvs": [
        "NC_000012.12:g.109573429G>T",
        "CM000674.2:g.109573429G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 110011234,
          "referenceAllele": "G",
          "start": 110011233
        }
      ],
      "hgvs": [
        "NC_000012.11:g.110011234G>T",
        "CM000674.1:g.110011234G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 108495617,
          "referenceAllele": "G",
          "start": 108495616
        }
      ],
      "hgvs": [
        "NC_000012.10:g.108495617G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5069,
          "referenceAllele": "C",
          "start": 5068
        }
      ],
      "hgvs": [
        "NG_007096.1:g.5069C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000477"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4735,
          "referenceAllele": "G",
          "start": 4734
        }
      ],
      "hgvs": [
        "NG_007702.1:g.4735G>T",
        "LRG_156:g.4735G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000671"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 150,
          "referenceAllele": "G",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000546277.6:c.-157G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438153.2:n.-157G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905811"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 76,
          "referenceAllele": "C",
          "start": 75
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000545712.7:c.52C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445920.1:p.Leu18Met",
        "hgvsWellDefined": "ENSP00000445920.1:p.Leu18Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000545712.7:c.52C>A"
          },
          "RefSeq": {
            "hgvs": "NM_052845.4:c.52C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000445920.1:p.Leu18Met"
          },
          "RefSeq": {
            "hgvs": "NP_443077.1:p.Leu18Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 69,
          "referenceAllele": "C",
          "start": 68
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000420167.6:c.52C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416136.2:p.Leu18Met",
        "hgvsWellDefined": "ENSP00000416136.2:p.Leu18Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286203"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 76,
          "referenceAllele": "C",
          "start": 75
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000503497.7:c.52C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474881.1:p.Leu18Met",
        "hgvsWellDefined": "ENSP00000474881.1:p.Leu18Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335795"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 89,
          "referenceAllele": "G",
          "start": 88
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000535044.1:n.89G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359511"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 55,
          "referenceAllele": "C",
          "start": 54
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000536760.1:n.55C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360417"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 152,
          "referenceAllele": "C",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000537236.2:c.52C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483818.1:p.Leu18Met",
        "hgvsWellDefined": "ENSP00000483818.1:p.Leu18Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360670"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 75,
          "referenceAllele": "C",
          "start": 74
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000537496.5:c.52C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444793.1:p.Leu18Met",
        "hgvsWellDefined": "ENSP00000444793.1:p.Leu18Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360807"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 175,
          "referenceAllele": "G",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000539335.5:c.-148G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440379.1:n.-148G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361809"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 69,
          "referenceAllele": "C",
          "start": 68
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000540016.5:c.52C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474582.1:p.Leu18Met",
        "hgvsWellDefined": "ENSP00000474582.1:p.Leu18Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 52,
          "referenceAllele": "C",
          "start": 51
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000541763.6:c.52C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474981.1:p.Leu18Met",
        "hgvsWellDefined": "ENSP00000474981.1:p.Leu18Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363100"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 79,
          "referenceAllele": "C",
          "start": 78
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000542390.5:n.79C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363437"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 86,
          "referenceAllele": "C",
          "start": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000544051.5:c.52C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438079.1:p.Leu18Met",
        "hgvsWellDefined": "ENSP00000438079.1:p.Leu18Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 446,
          "referenceAllele": "C",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "ENST00000545712.6:c.52C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445920.1:p.Leu18Met",
        "hgvsWellDefined": "ENSP00000445920.1:p.Leu18Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 128,
          "referenceAllele": "G",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "ENST00000546277.5:c.-157G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438153.1:n.-157G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365540"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573298976",
      "coordinates": [
        {
          "allele": "A",
          "end": 125,
          "referenceAllele": "C",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "NM_052845.3:c.52C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_443077.1:p.Leu18Met",
        "hgvsWellDefined": "NP_443077.1:p.Leu18Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039844"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 125,
          "referenceAllele": "C",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "NR_038118.1:n.125C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 77,
          "referenceAllele": "G",
          "start": 76
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "XM_011538372.1:c.-157G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536674.1:n.-157G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 152,
          "referenceAllele": "C",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "XM_024448961.1:c.52C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304729.1:p.Leu18Met",
        "hgvsWellDefined": "XP_024304729.1:p.Leu18Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582526"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573298976",
      "coordinates": [
        {
          "allele": "A",
          "end": 76,
          "referenceAllele": "C",
          "start": 75
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "NM_052845.4:c.52C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_443077.1:p.Leu18Met",
        "hgvsWellDefined": "NP_443077.1:p.Leu18Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671607",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000545712.7:c.52C>A"
          },
          "RefSeq": {
            "hgvs": "NM_052845.4:c.52C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000445920.1:p.Leu18Met"
          },
          "RefSeq": {
            "hgvs": "NP_443077.1:p.Leu18Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 76,
          "referenceAllele": "C",
          "start": 75
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019331",
      "geneNCBI_id": 326625,
      "geneSymbol": "MMAB",
      "hgvs": [
        "NR_038118.2:n.76C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702298"
    }
  ],
  "type": "nucleotide"
}