Canonical Allele Identifier: CA340991

Gene: IDS

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

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