{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA411640968", "communityStandardTitle": [ "NM_000026.4(ADSL):c.568C>G (p.Arg190Gly)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2882204[alleleid]", "alleleId": 2882204, "preferredName": "NM_000026.4(ADSL):c.568C>G (p.Arg190Gly)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2725586", "RCV": [ "RCV003499623" ], "variationId": 2725586 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.40754953C>G?assembly=hg19", "id": "chr22:g.40754953C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.40358949C>G?assembly=hg38", "id": "chr22:g.40358949C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/750614500", "rs": 750614500 } ] }, "genomicAlleles": [ { "chromosome": "22", "coordinates": [ { "allele": "G", "end": 40358949, "referenceAllele": "C", "start": 40358948 } ], "hgvs": [ "NC_000022.11:g.40358949C>G", "CM000684.2:g.40358949C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000070" }, { "chromosome": "22", "coordinates": [ { "allele": "G", "end": 40754953, "referenceAllele": "C", "start": 40754952 } ], "hgvs": [ "NC_000022.10:g.40754953C>G", "CM000684.1:g.40754953C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000046" }, { "chromosome": "22", "coordinates": [ { "allele": "G", "end": 39084899, "referenceAllele": "C", "start": 39084898 } ], "hgvs": [ "NC_000022.9:g.39084899C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000022" }, { "coordinates": [ { "allele": "G", "end": 17450, "referenceAllele": "C", "start": 17449 } ], "hgvs": [ "NG_007993.1:g.17450C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000760" }, { "coordinates": [ { "allele": "G", "end": 17450, "referenceAllele": "C", "start": 17449 } ], "hgvs": [ "NG_007993.2:g.17450C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS616087" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000480775.3:c.568C>G" ], "proteinEffect": { "hgvs": "ENSP00000485462.2:p.Arg190Gly", "hgvsWellDefined": "ENSP00000485462.2:p.Arg190Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS757347" }, { "coordinates": [ { "allele": "G", "end": 472, "referenceAllele": "C", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000623287.4:c.443C>G" ], "proteinEffect": { "hgvs": "ENSP00000485437.1:p.Pro148Arg", "hgvsWellDefined": "ENSP00000485437.1:p.Pro148Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS762400" }, { "coordinates": [ { "allele": "G", "end": 666, "referenceAllele": "C", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000623632.4:c.568C>G" ], "proteinEffect": { "hgvs": "ENSP00000485288.2:p.Arg190Gly", "hgvsWellDefined": "ENSP00000485288.2:p.Arg190Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS762411" }, { "coordinates": [ { "allele": "G", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000625194.4:c.568C>G" ], "proteinEffect": { "hgvs": "ENSP00000485289.2:p.Arg190Gly", "hgvsWellDefined": "ENSP00000485289.2:p.Arg190Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS762458" }, { "coordinates": [ { "allele": "G", "end": 260, "referenceAllele": "C", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000636124.1:n.260C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS762889" }, { "coordinates": [ { "allele": "G", "end": 598, "referenceAllele": "C", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000636265.1:c.568C>G" ], "proteinEffect": { "hgvs": "ENSP00000490909.1:p.Arg190Gly", "hgvsWellDefined": "ENSP00000490909.1:p.Arg190Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS762996" }, { "coordinates": [ { "allele": "G", "end": 590, "referenceAllele": "C", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000636433.1:n.590C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS763110" }, { "coordinates": [ { "allele": "G", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000636714.1:c.568C>G" ], "proteinEffect": { "hgvs": "ENSP00000490946.1:p.Arg190Gly", "hgvsWellDefined": "ENSP00000490946.1:p.Arg190Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS763329" }, { "coordinates": [ { "allele": "G", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000637666.2:c.568C>G" ], "proteinEffect": { "hgvs": "ENSP00000489696.2:p.Arg190Gly", "hgvsWellDefined": "ENSP00000489696.2:p.Arg190Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS764026" }, { "coordinates": [ { "allele": "G", "end": 603, "referenceAllele": "C", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000637669.1:c.568C>G" ], "proteinEffect": { "hgvs": "ENSP00000489728.1:p.Arg190Gly", "hgvsWellDefined": "ENSP00000489728.1:p.Arg190Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS764029" }, { "coordinates": [ { "allele": "G", "end": 723, "referenceAllele": "C", "start": 722 } ], "hgvs": [ "ENST00000639722.1:c.*264C>G" ], "proteinEffect": { "hgvs": "ENSP00000492828.1:n.*264C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS765151" }, { "coordinates": [ { "allele": "G", "end": 592, "referenceAllele": "C", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000674592.1:n.592C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS774537" }, { "coordinates": [ { "allele": "G", "end": 3635, "referenceAllele": "C", "start": 3634 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000675622.1:n.3635C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS775415" }, { "coordinates": [ { "allele": "G", "end": 472, "referenceAllele": "C", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000679609.1:c.443C>G" ], "proteinEffect": { "hgvs": "ENSP00000506592.1:p.Pro148Arg", "hgvsWellDefined": "ENSP00000506592.1:p.Pro148Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS779237" }, { "coordinates": [ { "allele": "G", "end": 473, "referenceAllele": "C", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000679656.1:n.473C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS779283" }, { "coordinates": [ { "allele": "G", "end": 582, "referenceAllele": "C", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000679723.1:c.523C>G" ], "proteinEffect": { "hgvs": "ENSP00000505155.1:p.Arg175Gly", "hgvsWellDefined": "ENSP00000505155.1:p.Arg175Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS779350" }, { "coordinates": [ { "allele": "G", "end": 691, "referenceAllele": "C", "start": 690 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000679845.1:n.691C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS779467" }, { "coordinates": [ { "allele": "G", "end": 555, "referenceAllele": "C", "start": 554 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000679904.1:n.555C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS779526" }, { "coordinates": [ { "allele": "G", "end": 659, "referenceAllele": "C", "start": 658 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000680378.1:c.655C>G" ], "proteinEffect": { "hgvs": "ENSP00000505556.1:p.Arg219Gly", "hgvsWellDefined": "ENSP00000505556.1:p.Arg219Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS779996" }, { "coordinates": [ { "allele": "G", "end": 613, "referenceAllele": "C", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000680444.1:c.568C>G" ], "proteinEffect": { "hgvs": "ENSP00000505298.1:p.Arg190Gly", "hgvsWellDefined": "ENSP00000505298.1:p.Arg190Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS780061" }, { "coordinates": [ { "allele": "G", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000680978.1:c.568C>G" ], "proteinEffect": { "hgvs": "ENSP00000505244.1:p.Arg190Gly", "hgvsWellDefined": "ENSP00000505244.1:p.Arg190Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS780592" }, { "coordinates": [ { "allele": "G", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000681159.1:n.627C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS780771" }, { "coordinates": [ { "allele": "G", "end": 641, "referenceAllele": "C", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000216194.11:c.610C>G" ], "proteinEffect": { "hgvs": "ENSP00000216194.8:p.Arg204Gly", "hgvsWellDefined": "ENSP00000216194.8:p.Arg204Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS247967" }, { "coordinates": [ { "allele": "G", "end": 624, "referenceAllele": "C", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000342312.9:c.568C>G" ], "proteinEffect": { "hgvs": "ENSP00000341429.6:p.Arg190Gly", "hgvsWellDefined": "ENSP00000341429.6:p.Arg190Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS261527" }, { "coordinates": [ { "allele": "G", "end": 473, "referenceAllele": "C", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000477111.2:n.473C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS318005" }, { "coordinates": [ { "allele": "G", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000623063.3:c.568C>G" ], "proteinEffect": { "hgvs": "ENSP00000485525.1:p.Arg190Gly", "hgvsWellDefined": "ENSP00000485525.1:p.Arg190Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS405987", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000623063.3:c.568C>G" }, "RefSeq": { "hgvs": "NM_000026.4:c.568C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000485525.1:p.Arg190Gly" }, "RefSeq": { "hgvs": "NP_000017.1:p.Arg190Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 472, "referenceAllele": "C", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000623287.3:c.443C>G" ], "proteinEffect": { "hgvs": "ENSP00000485437.1:p.Pro148Arg", "hgvsWellDefined": "ENSP00000485437.1:p.Pro148Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS406041" }, { "coordinates": [ { "allele": "G", "end": 582, "referenceAllele": "C", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000623632.3:c.523C>G" ], "proteinEffect": { "hgvs": "ENSP00000485288.1:p.Arg175Gly", "hgvsWellDefined": "ENSP00000485288.1:p.Arg175Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS406133" }, { "coordinates": [ { "allele": "G", "end": 339, "referenceAllele": "C", "start": 338 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000623978.3:c.28C>G" ], "proteinEffect": { "hgvs": "ENSP00000485477.1:p.Arg10Gly", "hgvsWellDefined": "ENSP00000485477.1:p.Arg10Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS406222" }, { "coordinates": [ { "allele": "G", "end": 515, "referenceAllele": "C", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000624474.1:c.488C>G" ], "proteinEffect": { "hgvs": "ENSP00000485286.1:p.Pro163Arg", "hgvsWellDefined": "ENSP00000485286.1:p.Pro163Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS406339" }, { "coordinates": [ { "allele": "G", "end": 155, "referenceAllele": "C", "start": 154 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "ENST00000625194.3:c.155C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS406535" }, { "@id": "http://reg.genome.network/allele/PA2825005679", "coordinates": [ { "allele": "G", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_000026.2:c.568C>G" ], "proteinEffect": { "hgvs": "NP_000017.1:p.Arg190Gly", "hgvsWellDefined": "NP_000017.1:p.Arg190Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS006091" }, { "@id": "http://reg.genome.network/allele/PA2825589834", "coordinates": [ { "allele": "G", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001123378.1:c.568C>G" ], "proteinEffect": { "hgvs": "NP_001116850.1:p.Arg190Gly", "hgvsWellDefined": "NP_001116850.1:p.Arg190Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS011454" }, { "coordinates": [ { "allele": "G", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529976.1:c.568C>G" ], "proteinEffect": { "hgvs": "XP_011528278.1:p.Arg190Gly", "hgvsWellDefined": "XP_011528278.1:p.Arg190Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS097035" }, { "coordinates": [ { "allele": "G", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529977.1:c.568C>G" ], "proteinEffect": { "hgvs": "XP_011528279.1:p.Arg190Gly", "hgvsWellDefined": "XP_011528279.1:p.Arg190Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS097036" }, { "coordinates": [ { "allele": "G", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529978.1:c.568C>G" ], "proteinEffect": { "hgvs": "XP_011528280.1:p.Arg190Gly", "hgvsWellDefined": "XP_011528280.1:p.Arg190Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS097037" }, { "coordinates": [ { "allele": "G", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529979.1:c.568C>G" ], "proteinEffect": { "hgvs": "XP_011528281.1:p.Arg190Gly", "hgvsWellDefined": "XP_011528281.1:p.Arg190Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS097038" }, { "coordinates": [ { "allele": "G", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529980.1:c.568C>G" ], "proteinEffect": { "hgvs": "XP_011528282.1:p.Arg190Gly", "hgvsWellDefined": "XP_011528282.1:p.Arg190Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS097039" }, { "coordinates": [ { "allele": "G", "end": 484, "referenceAllele": "C", "start": 483 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529981.1:c.103C>G" ], "proteinEffect": { "hgvs": "XP_011528283.1:p.Arg35Gly", "hgvsWellDefined": "XP_011528283.1:p.Arg35Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS097040" }, { "coordinates": [ { "allele": "G", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XR_937824.1:n.627C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS132626" }, { "coordinates": [ { "allele": "G", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XR_937825.1:n.627C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS132627" }, { "coordinates": [ { "allele": "G", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XR_937826.1:n.627C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS132628" }, { "@id": "http://reg.genome.network/allele/PA2825005679", "coordinates": [ { "allele": "G", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_000026.3:c.568C>G" ], "proteinEffect": { "hgvs": "NP_000017.1:p.Arg190Gly", "hgvsWellDefined": "NP_000017.1:p.Arg190Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS510737" }, { "@id": "http://reg.genome.network/allele/PA2825589834", "coordinates": [ { "allele": "G", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001123378.2:c.568C>G" ], "proteinEffect": { "hgvs": "NP_001116850.1:p.Arg190Gly", "hgvsWellDefined": "NP_001116850.1:p.Arg190Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS511387" }, { "@id": "http://reg.genome.network/allele/PA2826972208", "coordinates": [ { "allele": "G", "end": 572, "referenceAllele": "C", "start": 571 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001317923.1:c.376C>G" ], "proteinEffect": { "hgvs": "NP_001304852.1:p.Arg126Gly", "hgvsWellDefined": "NP_001304852.1:p.Arg126Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS512598" }, { "@id": "http://reg.genome.network/allele/PA2828120029", "coordinates": [ { "allele": "G", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001363840.1:c.568C>G" ], "proteinEffect": { "hgvs": "NP_001350769.1:p.Arg190Gly", "hgvsWellDefined": "NP_001350769.1:p.Arg190Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS523595" }, { "coordinates": [ { "allele": "G", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NR_134256.1:n.627C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS527496" }, { "coordinates": [ { "allele": "G", "end": 625, "referenceAllele": "C", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529977.3:c.568C>G" ], "proteinEffect": { "hgvs": "XP_011528279.1:p.Arg190Gly", "hgvsWellDefined": "XP_011528279.1:p.Arg190Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS549749" }, { "coordinates": [ { "allele": "G", "end": 625, "referenceAllele": "C", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_011529980.3:c.568C>G" ], "proteinEffect": { "hgvs": "XP_011528282.1:p.Arg190Gly", "hgvsWellDefined": "XP_011528282.1:p.Arg190Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS549750" }, { "coordinates": [ { "allele": "G", "end": 564, "referenceAllele": "C", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_017028636.1:c.523C>G" ], "proteinEffect": { "hgvs": "XP_016884125.1:p.Arg175Gly", "hgvsWellDefined": "XP_016884125.1:p.Arg175Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS578329" }, { "coordinates": [ { "allele": "G", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_017028637.1:c.523C>G" ], "proteinEffect": { "hgvs": "XP_016884126.1:p.Arg175Gly", "hgvsWellDefined": "XP_016884126.1:p.Arg175Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS578330" }, { "coordinates": [ { "allele": "G", "end": 484, "referenceAllele": "C", "start": 483 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_017028638.1:c.103C>G" ], "proteinEffect": { "hgvs": "XP_016884127.1:p.Arg35Gly", "hgvsWellDefined": "XP_016884127.1:p.Arg35Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS578331" }, { "coordinates": [ { "allele": "G", "end": 468, "referenceAllele": "C", "start": 467 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_017028639.2:c.103C>G" ], "proteinEffect": { "hgvs": "XP_016884128.1:p.Arg35Gly", "hgvsWellDefined": "XP_016884128.1:p.Arg35Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS578332" }, { "coordinates": [ { "allele": "G", "end": 564, "referenceAllele": "C", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XM_024452166.1:c.523C>G" ], "proteinEffect": { "hgvs": "XP_024307934.1:p.Arg175Gly", "hgvsWellDefined": "XP_024307934.1:p.Arg175Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS585664" }, { "coordinates": [ { "allele": "G", "end": 625, "referenceAllele": "C", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XR_001755176.2:n.625C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS601039" }, { "coordinates": [ { "allele": "G", "end": 564, "referenceAllele": "C", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XR_002958670.1:n.564C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS604795" }, { "coordinates": [ { "allele": "G", "end": 625, "referenceAllele": "C", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XR_002958671.1:n.625C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS604796" }, { "coordinates": [ { "allele": "G", "end": 625, "referenceAllele": "C", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "XR_937825.3:n.625C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS611738" }, { "@id": "http://reg.genome.network/allele/PA2825005679", "coordinates": [ { "allele": "G", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_000026.4:c.568C>G" ], "proteinEffect": { "hgvs": "NP_000017.1:p.Arg190Gly", "hgvsWellDefined": "NP_000017.1:p.Arg190Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS662289", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000623063.3:c.568C>G" }, "RefSeq": { "hgvs": "NM_000026.4:c.568C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000485525.1:p.Arg190Gly" }, "RefSeq": { "hgvs": "NP_000017.1:p.Arg190Gly" } } } }, { "@id": "http://reg.genome.network/allele/PA2828120029", "coordinates": [ { "allele": "G", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001363840.2:c.568C>G" ], "proteinEffect": { "hgvs": "NP_001350769.1:p.Arg190Gly", "hgvsWellDefined": "NP_001350769.1:p.Arg190Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS690783" }, { "@id": "http://reg.genome.network/allele/PA2825589834", "coordinates": [ { "allele": "G", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001123378.3:c.568C>G" ], "proteinEffect": { "hgvs": "NP_001116850.1:p.Arg190Gly", "hgvsWellDefined": "NP_001116850.1:p.Arg190Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS712166" }, { "@id": "http://reg.genome.network/allele/PA2826972208", "coordinates": [ { "allele": "G", "end": 572, "referenceAllele": "C", "start": 571 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001317923.2:c.376C>G" ], "proteinEffect": { "hgvs": "NP_001304852.1:p.Arg126Gly", "hgvsWellDefined": "NP_001304852.1:p.Arg126Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS717463" }, { "@id": "http://reg.genome.network/allele/PA2828120029", "coordinates": [ { "allele": "G", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NM_001363840.3:c.568C>G" ], "proteinEffect": { "hgvs": "NP_001350769.1:p.Arg190Gly", "hgvsWellDefined": "NP_001350769.1:p.Arg190Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS720801" }, { "coordinates": [ { "allele": "G", "end": 627, "referenceAllele": "C", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN000291", "geneNCBI_id": 158, "geneSymbol": "ADSL", "hgvs": [ "NR_134256.2:n.627C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS730851" } ], "type": "nucleotide" }