{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA390747959", "communityStandardTitle": [ "NM_000153.4(GALC):c.830G>A (p.Ser277Asn)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=861138[alleleid]", "alleleId": 861138, "preferredName": "NM_000153.4(GALC):c.830G>A (p.Ser277Asn)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/873006", "RCV": [ "RCV001250794", "RCV004545052" ], "variationId": 873006 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.88434757C>T?assembly=hg19", "id": "chr14:g.88434757C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.87968413C>T?assembly=hg38", "id": "chr14:g.87968413C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1886145312", "rs": 1886145312 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-87968413-C-T?dataset=gnomad_r4", "id": "14-87968413-C-T", "variant": "14:87968413 C / T" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 87968413, "referenceAllele": "C", "start": 87968412 } ], "hgvs": [ "NC_000014.9:g.87968413C>T", "CM000676.2:g.87968413C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 88434757, "referenceAllele": "C", "start": 88434756 } ], "hgvs": [ "NC_000014.8:g.88434757C>T", "CM000676.1:g.88434757C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 87504510, "referenceAllele": "C", "start": 87504509 } ], "hgvs": [ "NC_000014.7:g.87504510C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "A", "end": 30151, "referenceAllele": "G", "start": 30150 } ], "hgvs": [ "NG_011853.2:g.30151G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002031" }, { "coordinates": [ { "allele": "A", "end": 30151, "referenceAllele": "G", "start": 30150 } ], "hgvs": [ "NG_011853.3:g.30151G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS706106" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 848, "referenceAllele": "G", "start": 847 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000261304.7:c.830G>A" ], "proteinEffect": { "hgvs": "ENSP00000261304.2:p.Ser277Asn", "hgvsWellDefined": "ENSP00000261304.2:p.Ser277Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS742114", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261304.7:c.830G>A" }, "RefSeq": { "hgvs": "NM_000153.4:c.830G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261304.2:p.Ser277Asn" }, "RefSeq": { "hgvs": "NP_000144.2:p.Ser277Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 937, "referenceAllele": "G", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000261304.6:c.830G>A" ], "proteinEffect": { "hgvs": "ENSP00000261304.2:p.Ser277Asn", "hgvsWellDefined": "ENSP00000261304.2:p.Ser277Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS250712" }, { "coordinates": [ { "allele": "A", "end": 775, "referenceAllele": "G", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000393568.8:c.761G>A" ], "proteinEffect": { "hgvs": "ENSP00000377198.4:p.Ser254Asn", "hgvsWellDefined": "ENSP00000377198.4:p.Ser254Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS275696" }, { "coordinates": [ { "allele": "A", "end": 918, "referenceAllele": "G", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000393569.6:c.752G>A" ], "proteinEffect": { "hgvs": "ENSP00000377199.2:p.Ser251Asn", "hgvsWellDefined": "ENSP00000377199.2:p.Ser251Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS275697" }, { "coordinates": [ { "allele": "A", "end": 820, "referenceAllele": "G", "start": 819 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000474294.6:n.820G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS315838" }, { "coordinates": [ { "allele": "A", "end": 585, "referenceAllele": "G", "start": 584 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000477716.3:n.585G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS318470" }, { "coordinates": [ { "allele": "A", "end": 1170, "referenceAllele": "G", "start": 1169 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000544807.6:c.662G>A" ], "proteinEffect": { "hgvs": "ENSP00000437513.2:p.Ser221Asn", "hgvsWellDefined": "ENSP00000437513.2:p.Ser221Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS364761" }, { "coordinates": [ { "allele": "A", "end": 353, "referenceAllele": "G", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000555000.5:c.197G>A" ], "proteinEffect": { "hgvs": "ENSP00000450472.1:p.Ser66Asn", "hgvsWellDefined": "ENSP00000450472.1:p.Ser66Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS371079" }, { "coordinates": [ { "allele": "A", "end": 870, "referenceAllele": "G", "start": 869 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000557316.5:c.*228G>A" ], "proteinEffect": { "hgvs": "ENSP00000452314.1:n.*228G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS372927" }, { "coordinates": [ { "allele": "A", "end": 820, "referenceAllele": "G", "start": 819 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "ENST00000622264.4:c.820G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS405647" }, { "@id": "http://reg.genome.network/allele/PA1139680414", "coordinates": [ { "allele": "A", "end": 937, "referenceAllele": "G", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_000153.3:c.830G>A" ], "proteinEffect": { "hgvs": "NP_000144.2:p.Ser277Asn", "hgvsWellDefined": "NP_000144.2:p.Ser277Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS006215" }, { "@id": "http://reg.genome.network/allele/PA2826253895", "coordinates": [ { "allele": "A", "end": 868, "referenceAllele": "G", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_001201401.1:c.761G>A" ], "proteinEffect": { "hgvs": "NP_001188330.1:p.Ser254Asn", "hgvsWellDefined": "NP_001188330.1:p.Ser254Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS017332" }, { "@id": "http://reg.genome.network/allele/PA2826254500", "coordinates": [ { "allele": "A", "end": 918, "referenceAllele": "G", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_001201402.1:c.752G>A" ], "proteinEffect": { "hgvs": "NP_001188331.1:p.Ser251Asn", "hgvsWellDefined": "NP_001188331.1:p.Ser251Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS017333" }, { "coordinates": [ { "allele": "A", "end": 1198, "referenceAllele": "G", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "XM_011536618.1:c.662G>A" ], "proteinEffect": { "hgvs": "XP_011534920.1:p.Ser221Asn", "hgvsWellDefined": "XP_011534920.1:p.Ser221Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS103603" }, { "coordinates": [ { "allele": "A", "end": 1219, "referenceAllele": "G", "start": 1218 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "XM_011536618.2:c.662G>A" ], "proteinEffect": { "hgvs": "XP_011534920.1:p.Ser221Asn", "hgvsWellDefined": "XP_011534920.1:p.Ser221Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS552566" }, { "@id": "http://reg.genome.network/allele/PA1139680414", "coordinates": [ { "allele": "A", "end": 848, "referenceAllele": "G", "start": 847 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_000153.4:c.830G>A" ], "proteinEffect": { "hgvs": "NP_000144.2:p.Ser277Asn", "hgvsWellDefined": "NP_000144.2:p.Ser277Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS662329", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000261304.7:c.830G>A" }, "RefSeq": { "hgvs": "NM_000153.4:c.830G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000261304.2:p.Ser277Asn" }, "RefSeq": { "hgvs": "NP_000144.2:p.Ser277Asn" } } } }, { "@id": "http://reg.genome.network/allele/PA2826253895", "coordinates": [ { "allele": "A", "end": 779, "referenceAllele": "G", "start": 778 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_001201401.2:c.761G>A" ], "proteinEffect": { "hgvs": "NP_001188330.1:p.Ser254Asn", "hgvsWellDefined": "NP_001188330.1:p.Ser254Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS714057" }, { "@id": "http://reg.genome.network/allele/PA2826254500", "coordinates": [ { "allele": "A", "end": 918, "referenceAllele": "G", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN004115", "geneNCBI_id": 2581, "geneSymbol": "GALC", "hgvs": [ "NM_001201402.2:c.752G>A" ], "proteinEffect": { "hgvs": "NP_001188331.1:p.Ser251Asn", "hgvsWellDefined": "NP_001188331.1:p.Ser251Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS714058" } ], "type": "nucleotide" }