{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA439798358", "communityStandardTitle": [ "NM_000477.7(ALB):c.6G>A (p.Lys2=)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.74270050G>A?assembly=hg19", "id": "chr4:g.74270050G>A" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 73404333, "referenceAllele": "G", "start": 73404332 } ], "hgvs": [ "NC_000004.12:g.73404333G>A", "CM000666.2:g.73404333G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 74270050, "referenceAllele": "G", "start": 74270049 } ], "hgvs": [ "NC_000004.11:g.74270050G>A", "CM000666.1:g.74270050G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 74488914, "referenceAllele": "G", "start": 74488913 } ], "hgvs": [ "NC_000004.10:g.74488914G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "A", "end": 5079, "referenceAllele": "G", "start": 5078 } ], "hgvs": [ "NG_009291.1:g.5079G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001547" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 47, "referenceAllele": "G", "start": 46 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000295897.9:c.6G>A" ], "proteinEffect": { "hgvs": "ENSP00000295897.4:p.Lys2=" }, "referenceSequence": "http://reg.genome.network/refseq/RS744342", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000295897.9:c.6G>A" }, "RefSeq": { "hgvs": "NM_000477.7:c.6G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000295897.4:p.Lys2=" }, "RefSeq": { "hgvs": "NP_000468.1:p.Lys2=" } } } }, { "coordinates": [ { "allele": "A", "end": 95, "referenceAllele": "G", "start": 94 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000295897.8:c.6G>A" ], "proteinEffect": { "hgvs": "ENSP00000295897.4:p.Lys2=" }, "referenceSequence": "http://reg.genome.network/refseq/RS254184" }, { "coordinates": [ { "allele": "A", "end": 26, "referenceAllele": "G", "start": 25 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000401494.7:c.6G>A" ], "proteinEffect": { "hgvs": "ENSP00000384695.3:p.Lys2=" }, "referenceSequence": "http://reg.genome.network/refseq/RS279246" }, { "coordinates": [ { "allele": "A", "end": 47, "referenceAllele": "G", "start": 46 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000415165.6:c.6G>A" ], "proteinEffect": { "hgvs": "ENSP00000401820.2:p.Lys2=" }, "referenceSequence": "http://reg.genome.network/refseq/RS283864" }, { "coordinates": [ { "allele": "A", "end": 47, "endIntronDirection": "-", "endIntronOffset": 35, "referenceAllele": "G", "start": 47, "startIntronDirection": "-", "startIntronOffset": 36 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000441319.5:c.48-36G>A" ], "proteinEffect": { "hgvs": "ENSP00000392541.1:n.48-36G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS296339" }, { "coordinates": [ { "allele": "A", "end": 33, "referenceAllele": "G", "start": 32 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000476441.6:c.6G>A" ], "proteinEffect": { "hgvs": "ENSP00000423727.1:p.Lys2=" }, "referenceSequence": "http://reg.genome.network/refseq/RS317490" }, { "coordinates": [ { "allele": "A", "end": 33, "referenceAllele": "G", "start": 32 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000503124.5:c.-175G>A" ], "proteinEffect": { "hgvs": "ENSP00000421027.1:n.-175G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS335518" }, { "coordinates": [ { "allele": "A", "end": 30, "referenceAllele": "G", "start": 29 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000509063.5:c.6G>A" ], "proteinEffect": { "hgvs": "ENSP00000422784.1:p.Lys2=" }, "referenceSequence": "http://reg.genome.network/refseq/RS339915" }, { "coordinates": [ { "allele": "A", "end": 47, "referenceAllele": "G", "start": 46 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000510166.5:n.47G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS340752" }, { "coordinates": [ { "allele": "A", "end": 45, "referenceAllele": "G", "start": 44 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000514786.1:n.45G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS344184" }, { "coordinates": [ { "allele": "A", "end": 47, "referenceAllele": "G", "start": 46 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000515133.5:n.47G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS344448" }, { "coordinates": [ { "allele": "A", "end": 47, "referenceAllele": "G", "start": 46 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000621085.4:c.6G>A" ], "proteinEffect": { "hgvs": "ENSP00000483421.1:p.Lys2=" }, "referenceSequence": "http://reg.genome.network/refseq/RS405108" }, { "coordinates": [ { "allele": "A", "end": 79, "referenceAllele": "G", "start": 78 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "ENST00000621628.4:c.6G>A" ], "proteinEffect": { "hgvs": "ENSP00000480485.1:p.Lys2=" }, "referenceSequence": "http://reg.genome.network/refseq/RS405355" }, { "coordinates": [ { "allele": "A", "end": 79, "referenceAllele": "G", "start": 78 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "NM_000477.5:c.6G>A" ], "proteinEffect": { "hgvs": "NP_000468.1:p.Lys2=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006531" }, { "coordinates": [ { "allele": "A", "end": 95, "referenceAllele": "G", "start": 94 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "NM_000477.6:c.6G>A" ], "proteinEffect": { "hgvs": "NP_000468.1:p.Lys2=" }, "referenceSequence": "http://reg.genome.network/refseq/RS510797" }, { "coordinates": [ { "allele": "A", "end": 47, "referenceAllele": "G", "start": 46 } ], "gene": "http://reg.genome.network/gene/GN000399", "geneNCBI_id": 213, "geneSymbol": "ALB", "hgvs": [ "NM_000477.7:c.6G>A" ], "proteinEffect": { "hgvs": "NP_000468.1:p.Lys2=" }, "referenceSequence": "http://reg.genome.network/refseq/RS662455", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000295897.9:c.6G>A" }, "RefSeq": { "hgvs": "NM_000477.7:c.6G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000295897.4:p.Lys2=" }, "RefSeq": { "hgvs": "NP_000468.1:p.Lys2=" } } } } ], "type": "nucleotide" }