Canonical Allele Identifier: CA340991
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 10497
ClinVar RCV Id: RCV000011243 RCV000180471 RCV000723439
dbSNP Id: rs199422231
MyVariant Identifiers: chrX:g.148564528G>A (hg19) chrX:g.149482997G>A (hg38)
PubMed: PMID:1284597 PMID:15614569 PMID:23891399 PMID:27351199 PMID:28077157
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149482997G>A , CM000685.2:g.149482997G>A GRCh38
NC_000023.10:g.148564528G>A , CM000685.1:g.148564528G>A GRCh37
NC_000023.9:g.148372433G>A NCBI36
NG_011900.3:g.27338C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1402C>T MANE Select ENSP00000339801.6:p.Arg468Trp
ENST00000651111.1:c.769C>T ENSP00000498395.1:p.Arg257Trp
ENST00000340855.10:c.1402C>T ENSP00000339801.6:p.Arg468Trp
ENST00000422081.6:c.769C>T ENSP00000477056.1:p.Arg257Trp
NM_000202.6:c.1402C>T NP_000193.1:p.Arg468Trp
NM_001166550.2:c.1132C>T NP_001160022.1:p.Arg378Trp
NM_000202.7:c.1402C>T NP_000193.1:p.Arg468Trp
NM_001166550.3:c.1132C>T NP_001160022.1:p.Arg378Trp
NM_000202.8:c.1402C>T MANE Select NP_000193.1:p.Arg468Trp
NM_001166550.4:c.1132C>T NP_001160022.1:p.Arg378Trp
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