{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA312677",
  "communityStandardTitle": [
    "NM_020166.5(MCCC1):c.1331G>A (p.Arg444His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=200045[alleleid]",
        "alleleId": 200045,
        "preferredName": "NM_020166.5(MCCC1):c.1331G>A (p.Arg444His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/203796",
        "RCV": [
          "RCV000808142",
          "RCV001275506",
          "RCV003480081"
        ],
        "variationId": 203796
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-182756860-C-T",
        "id": "3-182756860-C-T",
        "variant": "3:182756860 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.182756860C>T?assembly=hg19",
        "id": "chr3:g.182756860C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.183039072C>T?assembly=hg38",
        "id": "chr3:g.183039072C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/768785753",
        "rs": 768785753
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-182756860-C-T?dataset=gnomad_r2_1",
        "id": "3-182756860-C-T",
        "variant": "3:182756860 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-183039072-C-T?dataset=gnomad_r3",
        "id": "3-183039072-C-T",
        "variant": "3:183039072 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-183039072-C-T?dataset=gnomad_r4",
        "id": "3-183039072-C-T",
        "variant": "3:183039072 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 183039072,
          "referenceAllele": "C",
          "start": 183039071
        }
      ],
      "hgvs": [
        "NC_000003.12:g.183039072C>T",
        "CM000665.2:g.183039072C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 182756860,
          "referenceAllele": "C",
          "start": 182756859
        }
      ],
      "hgvs": [
        "NC_000003.11:g.182756860C>T",
        "CM000665.1:g.182756860C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 184239554,
          "referenceAllele": "C",
          "start": 184239553
        }
      ],
      "hgvs": [
        "NC_000003.10:g.184239554C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 65506,
          "referenceAllele": "G",
          "start": 65505
        }
      ],
      "hgvs": [
        "NG_008100.1:g.65506G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000845"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1387,
          "referenceAllele": "G",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000265594.9:c.1331G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265594.4:p.Arg444His",
        "hgvsWellDefined": "ENSP00000265594.4:p.Arg444His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742855",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265594.9:c.1331G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020166.5:c.1331G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265594.4:p.Arg444His"
          },
          "RefSeq": {
            "hgvs": "NP_064551.3:p.Arg444His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1478,
          "referenceAllele": "G",
          "start": 1477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000265594.8:c.1331G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265594.4:p.Arg444His",
        "hgvsWellDefined": "ENSP00000265594.4:p.Arg444His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251776"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1300,
          "referenceAllele": "G",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000476176.5:c.1190G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420433.1:p.Arg397His",
        "hgvsWellDefined": "ENSP00000420433.1:p.Arg397His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317298"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1707,
          "referenceAllele": "G",
          "start": 1706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000492597.5:c.1004G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419898.1:p.Arg335His",
        "hgvsWellDefined": "ENSP00000419898.1:p.Arg335His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329943"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1176,
          "referenceAllele": "G",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000495767.5:c.*912G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419658.1:n.*912G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1162,
          "referenceAllele": "G",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000497830.5:c.*928G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420088.1:n.*928G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333972"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1998,
          "referenceAllele": "G",
          "start": 1997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000497959.5:c.1217G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420648.1:p.Arg406His",
        "hgvsWellDefined": "ENSP00000420648.1:p.Arg406His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334071"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1091,
          "referenceAllele": "G",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000539926.5:c.881G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441253.2:p.Arg294His",
        "hgvsWellDefined": "ENSP00000441253.2:p.Arg294His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362129"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1345,
          "referenceAllele": "G",
          "start": 1344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000610757.4:c.881G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480435.1:p.Arg294His",
        "hgvsWellDefined": "ENSP00000480435.1:p.Arg294His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400560"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1468,
          "referenceAllele": "G",
          "start": 1467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000629669.2:c.1217G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486824.1:p.Arg406His",
        "hgvsWellDefined": "ENSP00000486824.1:p.Arg406His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407257"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826831444",
      "coordinates": [
        {
          "allele": "A",
          "end": 1219,
          "referenceAllele": "G",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_001293273.1:c.980G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280202.1:p.Arg327His",
        "hgvsWellDefined": "NP_001280202.1:p.Arg327His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024520"
    },
    {
      "@id": "http://reg.genome.network/allele/PA312678",
      "coordinates": [
        {
          "allele": "A",
          "end": 1478,
          "referenceAllele": "G",
          "start": 1477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_020166.4:c.1331G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_064551.3:p.Arg444His",
        "hgvsWellDefined": "NP_064551.3:p.Arg444His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1245,
          "referenceAllele": "G",
          "start": 1244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NR_120639.1:n.1245G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1998,
          "referenceAllele": "G",
          "start": 1997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NR_120640.1:n.1998G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1284,
          "referenceAllele": "G",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XM_006713702.1:c.1004G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713765.1:p.Arg335His",
        "hgvsWellDefined": "XP_006713765.1:p.Arg335His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070312"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2030,
          "referenceAllele": "G",
          "start": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XM_011512992.1:c.1217G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511294.1:p.Arg406His",
        "hgvsWellDefined": "XP_011511294.1:p.Arg406His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080247"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1478,
          "referenceAllele": "G",
          "start": 1477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XM_011512993.1:c.1331G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511295.1:p.Arg444His",
        "hgvsWellDefined": "XP_011511295.1:p.Arg444His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080248"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1478,
          "referenceAllele": "G",
          "start": 1477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_241502.2:n.1478G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116060"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1478,
          "referenceAllele": "G",
          "start": 1477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_924159.1:n.1478G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828125774",
      "coordinates": [
        {
          "allele": "A",
          "end": 1341,
          "referenceAllele": "G",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_001363880.1:c.1004G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350809.1:p.Arg335His",
        "hgvsWellDefined": "NP_001350809.1:p.Arg335His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2076,
          "referenceAllele": "G",
          "start": 2075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XM_011512992.2:c.1217G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511294.1:p.Arg406His",
        "hgvsWellDefined": "XP_011511294.1:p.Arg406His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1454,
          "referenceAllele": "G",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_001740207.2:n.1454G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590430"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1454,
          "referenceAllele": "G",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_001740208.2:n.1454G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590431"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1424,
          "referenceAllele": "G",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_001740209.2:n.1424G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590432"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1284,
          "referenceAllele": "G",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_001740210.1:n.1284G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590433"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1454,
          "referenceAllele": "G",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_002959553.1:n.1454G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1454,
          "referenceAllele": "G",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_002959554.1:n.1454G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1424,
          "referenceAllele": "G",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_241502.3:n.1424G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA312678",
      "coordinates": [
        {
          "allele": "A",
          "end": 1387,
          "referenceAllele": "G",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_020166.5:c.1331G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_064551.3:p.Arg444His",
        "hgvsWellDefined": "NP_064551.3:p.Arg444His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669908",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265594.9:c.1331G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020166.5:c.1331G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265594.4:p.Arg444His"
          },
          "RefSeq": {
            "hgvs": "NP_064551.3:p.Arg444His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826831444",
      "coordinates": [
        {
          "allele": "A",
          "end": 1128,
          "referenceAllele": "G",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_001293273.2:c.980G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280202.1:p.Arg327His",
        "hgvsWellDefined": "NP_001280202.1:p.Arg327His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1154,
          "referenceAllele": "G",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NR_120639.2:n.1154G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730741"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1998,
          "referenceAllele": "G",
          "start": 1997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NR_120640.2:n.1998G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730742"
    }
  ],
  "type": "nucleotide"
}