{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA353443", "communityStandardTitle": [ "NM_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=225851[alleleid]", "alleleId": 225851, "preferredName": "NM_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/224121", "RCV": [ "RCV000209921" ], "variationId": 224121 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.153217504G>C?assembly=hg19", "id": "chrX:g.153217504G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.153952053G>C?assembly=hg38", "id": "chrX:g.153952053G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/869312686", "rs": 869312686 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "C", "end": 153952053, "referenceAllele": "G", "start": 153952052 } ], "hgvs": [ "NC_000023.11:g.153952053G>C", "CM000685.2:g.153952053G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "C", "end": 153217504, "referenceAllele": "G", "start": 153217503 } ], "hgvs": [ "NC_000023.10:g.153217504G>C", "CM000685.1:g.153217504G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "C", "end": 152870698, "referenceAllele": "G", "start": 152870697 } ], "hgvs": [ "NC_000023.9:g.152870698G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "G", "end": 24316, "referenceAllele": "C", "start": 24315 } ], "hgvs": [ "NG_012513.1:g.24316C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS002431" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 6026, "referenceAllele": "C", "start": 6025 } ], "gene": "http://reg.genome.network/gene/GN004839", "geneNCBI_id": 3054, "geneSymbol": "HCFC1", "hgvs": [ "ENST00000310441.12:c.5048C>G" ], "proteinEffect": { "hgvs": "ENSP00000309555.7:p.Pro1683Arg", "hgvsWellDefined": "ENSP00000309555.7:p.Pro1683Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS745634", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000310441.12:c.5048C>G" }, "RefSeq": { "hgvs": "NM_005334.3:c.5048C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000309555.7:p.Pro1683Arg" }, "RefSeq": { "hgvs": "NP_005325.2:p.Pro1683Arg" } } } }, { "coordinates": [ { "allele": "G", "end": 6015, "referenceAllele": "C", "start": 6014 } ], "gene": "http://reg.genome.network/gene/GN004839", "geneNCBI_id": 3054, "geneSymbol": "HCFC1", "hgvs": [ "ENST00000310441.11:c.5048C>G" ], "proteinEffect": { "hgvs": "ENSP00000309555.7:p.Pro1683Arg", "hgvsWellDefined": "ENSP00000309555.7:p.Pro1683Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS256366" }, { "coordinates": [ { "allele": "G", "end": 5527, "referenceAllele": "C", "start": 5526 } ], "gene": "http://reg.genome.network/gene/GN004839", "geneNCBI_id": 3054, "geneSymbol": "HCFC1", "hgvs": [ "ENST00000369984.4:c.5183C>G" ], "proteinEffect": { "hgvs": "ENSP00000359001.4:p.Pro1728Arg", "hgvsWellDefined": "ENSP00000359001.4:p.Pro1728Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS267809" }, { "coordinates": [ { "allele": "G", "end": 774, "referenceAllele": "C", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN004839", "geneNCBI_id": 3054, "geneSymbol": "HCFC1", "hgvs": [ "ENST00000444191.5:c.774C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS297691" }, { "@id": "http://reg.genome.network/allele/PA353444", "coordinates": [ { "allele": "G", "end": 5576, "referenceAllele": "C", "start": 5575 } ], "gene": "http://reg.genome.network/gene/GN004839", "geneNCBI_id": 3054, "geneSymbol": "HCFC1", "hgvs": [ "NM_005334.2:c.5048C>G" ], "proteinEffect": { "hgvs": "NP_005325.2:p.Pro1683Arg", "hgvsWellDefined": "NP_005325.2:p.Pro1683Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS030440" }, { "coordinates": [ { "allele": "G", "end": 6176, "referenceAllele": "C", "start": 6175 } ], "gene": "http://reg.genome.network/gene/GN004839", "geneNCBI_id": 3054, "geneSymbol": "HCFC1", "hgvs": [ "XM_006724815.1:c.5183C>G" ], "proteinEffect": { "hgvs": "XP_006724878.1:p.Pro1728Arg", "hgvsWellDefined": "XP_006724878.1:p.Pro1728Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS075725" }, { "coordinates": [ { "allele": "G", "end": 6173, "referenceAllele": "C", "start": 6172 } ], "gene": "http://reg.genome.network/gene/GN004839", "geneNCBI_id": 3054, "geneSymbol": "HCFC1", "hgvs": [ "XM_006724816.1:c.5180C>G" ], "proteinEffect": { "hgvs": "XP_006724879.1:p.Pro1727Arg", "hgvsWellDefined": "XP_006724879.1:p.Pro1727Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS075726" }, { "coordinates": [ { "allele": "G", "end": 6176, "referenceAllele": "C", "start": 6175 } ], "gene": "http://reg.genome.network/gene/GN004839", "geneNCBI_id": 3054, "geneSymbol": "HCFC1", "hgvs": [ "XM_011531144.1:c.5183C>G" ], "proteinEffect": { "hgvs": "XP_011529446.1:p.Pro1728Arg", "hgvsWellDefined": "XP_011529446.1:p.Pro1728Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS098185" }, { "coordinates": [ { "allele": "G", "end": 6173, "referenceAllele": "C", "start": 6172 } ], "gene": "http://reg.genome.network/gene/GN004839", "geneNCBI_id": 3054, "geneSymbol": "HCFC1", "hgvs": [ "XM_011531145.1:c.5180C>G" ], "proteinEffect": { "hgvs": "XP_011529447.1:p.Pro1727Arg", "hgvsWellDefined": "XP_011529447.1:p.Pro1727Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS098186" }, { "coordinates": [ { "allele": "G", "end": 6173, "referenceAllele": "C", "start": 6172 } ], "gene": "http://reg.genome.network/gene/GN004839", "geneNCBI_id": 3054, "geneSymbol": "HCFC1", "hgvs": [ "XM_011531146.1:c.5180C>G" ], "proteinEffect": { "hgvs": "XP_011529448.1:p.Pro1727Arg", "hgvsWellDefined": "XP_011529448.1:p.Pro1727Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS098187" }, { "coordinates": [ { "allele": "G", "end": 6044, "referenceAllele": "C", "start": 6043 } ], "gene": "http://reg.genome.network/gene/GN004839", "geneNCBI_id": 3054, "geneSymbol": "HCFC1", "hgvs": [ "XM_011531147.1:c.5051C>G" ], "proteinEffect": { "hgvs": "XP_011529449.1:p.Pro1684Arg", "hgvsWellDefined": "XP_011529449.1:p.Pro1684Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS098188" }, { "coordinates": [ { "allele": "G", "end": 6041, "referenceAllele": "C", "start": 6040 } ], "gene": "http://reg.genome.network/gene/GN004839", "geneNCBI_id": 3054, "geneSymbol": "HCFC1", "hgvs": [ "XM_011531148.1:c.5048C>G" ], "proteinEffect": { "hgvs": "XP_011529450.1:p.Pro1683Arg", "hgvsWellDefined": "XP_011529450.1:p.Pro1683Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS098189" }, { "coordinates": [ { "allele": "G", "end": 5978, "referenceAllele": "C", "start": 5977 } ], "gene": "http://reg.genome.network/gene/GN004839", "geneNCBI_id": 3054, "geneSymbol": "HCFC1", "hgvs": [ "XM_011531149.1:c.4985C>G" ], "proteinEffect": { "hgvs": "XP_011529451.1:p.Pro1662Arg", "hgvsWellDefined": "XP_011529451.1:p.Pro1662Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS098190" }, { "coordinates": [ { "allele": "G", "end": 4363, "referenceAllele": "C", "start": 4362 } ], "gene": "http://reg.genome.network/gene/GN004839", "geneNCBI_id": 3054, "geneSymbol": "HCFC1", "hgvs": [ "XM_011531150.1:c.4274C>G" ], "proteinEffect": { "hgvs": "XP_011529452.1:p.Pro1425Arg", "hgvsWellDefined": "XP_011529452.1:p.Pro1425Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS098191" }, { "coordinates": [ { "allele": "G", "end": 6702, "referenceAllele": "C", "start": 6701 } ], "gene": "http://reg.genome.network/gene/GN004839", "geneNCBI_id": 3054, "geneSymbol": "HCFC1", "hgvs": [ "XM_006724815.3:c.5183C>G" ], "proteinEffect": { "hgvs": "XP_006724878.1:p.Pro1728Arg", "hgvsWellDefined": "XP_006724878.1:p.Pro1728Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS541074" }, { "coordinates": [ { "allele": "G", "end": 6698, "referenceAllele": "C", "start": 6697 } ], "gene": "http://reg.genome.network/gene/GN004839", "geneNCBI_id": 3054, "geneSymbol": "HCFC1", "hgvs": [ "XM_006724816.3:c.5180C>G" ], "proteinEffect": { "hgvs": "XP_006724879.1:p.Pro1727Arg", "hgvsWellDefined": "XP_006724879.1:p.Pro1727Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS541075" }, { "coordinates": [ { "allele": "G", "end": 6570, "referenceAllele": "C", "start": 6569 } ], "gene": "http://reg.genome.network/gene/GN004839", "geneNCBI_id": 3054, "geneSymbol": "HCFC1", "hgvs": [ "XM_011531147.3:c.5051C>G" ], "proteinEffect": { "hgvs": "XP_011529449.1:p.Pro1684Arg", "hgvsWellDefined": "XP_011529449.1:p.Pro1684Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS550248" }, { "coordinates": [ { "allele": "G", "end": 6566, "referenceAllele": "C", "start": 6565 } ], "gene": "http://reg.genome.network/gene/GN004839", "geneNCBI_id": 3054, "geneSymbol": "HCFC1", "hgvs": [ "XM_011531148.3:c.5048C>G" ], "proteinEffect": { "hgvs": "XP_011529450.1:p.Pro1683Arg", "hgvsWellDefined": "XP_011529450.1:p.Pro1683Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS550249" }, { "coordinates": [ { "allele": "G", "end": 6502, "referenceAllele": "C", "start": 6501 } ], "gene": "http://reg.genome.network/gene/GN004839", "geneNCBI_id": 3054, "geneSymbol": "HCFC1", "hgvs": [ "XM_017029471.2:c.4982C>G" ], "proteinEffect": { "hgvs": "XP_016884960.1:p.Pro1661Arg", "hgvsWellDefined": "XP_016884960.1:p.Pro1661Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS579005" }, { "coordinates": [ { "allele": "G", "end": 4361, "referenceAllele": "C", "start": 4360 } ], "gene": "http://reg.genome.network/gene/GN004839", "geneNCBI_id": 3054, "geneSymbol": "HCFC1", "hgvs": [ "XM_017029472.1:c.4271C>G" ], "proteinEffect": { "hgvs": "XP_016884961.1:p.Pro1424Arg", "hgvsWellDefined": "XP_016884961.1:p.Pro1424Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS579006" }, { "@id": "http://reg.genome.network/allele/PA353444", "coordinates": [ { "allele": "G", "end": 6026, "referenceAllele": "C", "start": 6025 } ], "gene": "http://reg.genome.network/gene/GN004839", "geneNCBI_id": 3054, "geneSymbol": "HCFC1", "hgvs": [ "NM_005334.3:c.5048C>G" ], "proteinEffect": { "hgvs": "NP_005325.2:p.Pro1683Arg", "hgvsWellDefined": "NP_005325.2:p.Pro1683Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS666915", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000310441.12:c.5048C>G" }, "RefSeq": { "hgvs": "NM_005334.3:c.5048C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000309555.7:p.Pro1683Arg" }, "RefSeq": { "hgvs": "NP_005325.2:p.Pro1683Arg" } } } } ], "type": "nucleotide" }