{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA355330610",
  "communityStandardTitle": [
    "NM_020166.5(MCCC1):c.539G>T (p.Gly180Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1468168[alleleid]",
        "alleleId": 1468168,
        "preferredName": "NM_020166.5(MCCC1):c.539G>T (p.Gly180Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1458456",
        "RCV": [
          "RCV001956382"
        ],
        "variationId": 1458456
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.182789098C>A?assembly=hg19",
        "id": "chr3:g.182789098C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.183071310C>A?assembly=hg38",
        "id": "chr3:g.183071310C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/748201122",
        "rs": 748201122
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-182789098-C-A?dataset=gnomad_r2_1",
        "id": "3-182789098-C-A",
        "variant": "3:182789098 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-183071310-C-A?dataset=gnomad_r3",
        "id": "3-183071310-C-A",
        "variant": "3:183071310 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-183071310-C-A?dataset=gnomad_r4",
        "id": "3-183071310-C-A",
        "variant": "3:183071310 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 183071310,
          "referenceAllele": "C",
          "start": 183071309
        }
      ],
      "hgvs": [
        "NC_000003.12:g.183071310C>A",
        "CM000665.2:g.183071310C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 182789098,
          "referenceAllele": "C",
          "start": 182789097
        }
      ],
      "hgvs": [
        "NC_000003.11:g.182789098C>A",
        "CM000665.1:g.182789098C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 184271792,
          "referenceAllele": "C",
          "start": 184271791
        }
      ],
      "hgvs": [
        "NC_000003.10:g.184271792C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 33268,
          "referenceAllele": "G",
          "start": 33267
        }
      ],
      "hgvs": [
        "NG_008100.1:g.33268G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000845"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 595,
          "referenceAllele": "G",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000265594.9:c.539G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265594.4:p.Gly180Val",
        "hgvsWellDefined": "ENSP00000265594.4:p.Gly180Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742855",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265594.9:c.539G>T"
          },
          "RefSeq": {
            "hgvs": "NM_020166.5:c.539G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265594.4:p.Gly180Val"
          },
          "RefSeq": {
            "hgvs": "NP_064551.3:p.Gly180Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 686,
          "referenceAllele": "G",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000265594.8:c.539G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265594.4:p.Gly180Val",
        "hgvsWellDefined": "ENSP00000265594.4:p.Gly180Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "referenceAllele": "G",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000466650.5:c.*136G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418979.1:n.*136G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS309968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 508,
          "referenceAllele": "G",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000476176.5:c.398G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420433.1:p.Gly133Val",
        "hgvsWellDefined": "ENSP00000420433.1:p.Gly133Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 384,
          "referenceAllele": "G",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000487634.5:c.*120G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420591.1:n.*120G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 342,
          "referenceAllele": "G",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000490284.5:c.*88G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419328.1:n.*88G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328149"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 915,
          "referenceAllele": "G",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000492597.5:c.212G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419898.1:p.Gly71Val",
        "hgvsWellDefined": "ENSP00000419898.1:p.Gly71Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329943"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 384,
          "referenceAllele": "G",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000495767.5:c.*120G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419658.1:n.*120G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "referenceAllele": "G",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000497830.5:c.*136G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420088.1:n.*136G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333972"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1206,
          "referenceAllele": "G",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000497959.5:c.425G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420648.1:p.Gly142Val",
        "hgvsWellDefined": "ENSP00000420648.1:p.Gly142Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "referenceAllele": "G",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000539926.5:c.89G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441253.2:p.Gly30Val",
        "hgvsWellDefined": "ENSP00000441253.2:p.Gly30Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 553,
          "referenceAllele": "G",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000610757.4:c.89G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480435.1:p.Gly30Val",
        "hgvsWellDefined": "ENSP00000480435.1:p.Gly30Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400560"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 676,
          "referenceAllele": "G",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "ENST00000629669.2:c.425G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486824.1:p.Gly142Val",
        "hgvsWellDefined": "ENSP00000486824.1:p.Gly142Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407257"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826831267",
      "coordinates": [
        {
          "allele": "T",
          "end": 427,
          "referenceAllele": "G",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_001293273.1:c.188G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280202.1:p.Gly63Val",
        "hgvsWellDefined": "NP_001280202.1:p.Gly63Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024520"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104860",
      "coordinates": [
        {
          "allele": "T",
          "end": 686,
          "referenceAllele": "G",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_020166.4:c.539G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_064551.3:p.Gly180Val",
        "hgvsWellDefined": "NP_064551.3:p.Gly180Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 453,
          "referenceAllele": "G",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NR_120639.1:n.453G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055514"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1206,
          "referenceAllele": "G",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NR_120640.1:n.1206G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 492,
          "referenceAllele": "G",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XM_006713702.1:c.212G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713765.1:p.Gly71Val",
        "hgvsWellDefined": "XP_006713765.1:p.Gly71Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1238,
          "referenceAllele": "G",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XM_011512992.1:c.425G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511294.1:p.Gly142Val",
        "hgvsWellDefined": "XP_011511294.1:p.Gly142Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 686,
          "referenceAllele": "G",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XM_011512993.1:c.539G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511295.1:p.Gly180Val",
        "hgvsWellDefined": "XP_011511295.1:p.Gly180Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080248"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 686,
          "referenceAllele": "G",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_241502.2:n.686G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116060"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 686,
          "referenceAllele": "G",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_924159.1:n.686G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS121219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573209118",
      "coordinates": [
        {
          "allele": "T",
          "end": 549,
          "referenceAllele": "G",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_001363880.1:c.212G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350809.1:p.Gly71Val",
        "hgvsWellDefined": "NP_001350809.1:p.Gly71Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1284,
          "referenceAllele": "G",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XM_011512992.2:c.425G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511294.1:p.Gly142Val",
        "hgvsWellDefined": "XP_011511294.1:p.Gly142Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 662,
          "referenceAllele": "G",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_001740207.2:n.662G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590430"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 662,
          "referenceAllele": "G",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_001740208.2:n.662G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 632,
          "referenceAllele": "G",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_001740209.2:n.632G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 492,
          "referenceAllele": "G",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_001740210.1:n.492G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590433"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 662,
          "referenceAllele": "G",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_002959553.1:n.662G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 662,
          "referenceAllele": "G",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_002959554.1:n.662G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 632,
          "referenceAllele": "G",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "XR_241502.3:n.632G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104860",
      "coordinates": [
        {
          "allele": "T",
          "end": 595,
          "referenceAllele": "G",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_020166.5:c.539G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_064551.3:p.Gly180Val",
        "hgvsWellDefined": "NP_064551.3:p.Gly180Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669908",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265594.9:c.539G>T"
          },
          "RefSeq": {
            "hgvs": "NM_020166.5:c.539G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265594.4:p.Gly180Val"
          },
          "RefSeq": {
            "hgvs": "NP_064551.3:p.Gly180Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826831267",
      "coordinates": [
        {
          "allele": "T",
          "end": 336,
          "referenceAllele": "G",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_001293273.2:c.188G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280202.1:p.Gly63Val",
        "hgvsWellDefined": "NP_001280202.1:p.Gly63Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 362,
          "referenceAllele": "G",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NR_120639.2:n.362G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1206,
          "referenceAllele": "G",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NR_120640.2:n.1206G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730742"
    }
  ],
  "type": "nucleotide"
}