Canonical Allele Identifier: CA121099

Gene: IDS

Linked Data

• ClinVar Variation Id: 10500
• ClinVar RCV Id: RCV000011246
• dbSNP Id: rs113993946
• MyVariant Identifiers: chrX:g.148564527C>A (hg19) ; chrX:g.149482996C>A (hg38)
• PubMed: PMID:1284597 ; PMID:8111411 ; PMID:8364592 ; PMID:9501270

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482996C>A , CM000685.2:g.149482996C>A	GRCh38
NC_000023.10:g.148564527C>A , CM000685.1:g.148564527C>A	GRCh37
NC_000023.9:g.148372432C>A	NCBI36
NG_011900.3:g.27339G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1403G>T MANE Select	ENSP00000339801.6:p.Arg468Leu
ENST00000651111.1:c.770G>T	ENSP00000498395.1:p.Arg257Leu
ENST00000340855.10:c.1403G>T	ENSP00000339801.6:p.Arg468Leu
ENST00000422081.6:c.770G>T	ENSP00000477056.1:p.Arg257Leu
NM_000202.6:c.1403G>T	NP_000193.1:p.Arg468Leu
NM_001166550.2:c.1133G>T	NP_001160022.1:p.Arg378Leu
NM_000202.7:c.1403G>T	NP_000193.1:p.Arg468Leu
NM_001166550.3:c.1133G>T	NP_001160022.1:p.Arg378Leu
NM_000202.8:c.1403G>T MANE Select	NP_000193.1:p.Arg468Leu
NM_001166550.4:c.1133G>T	NP_001160022.1:p.Arg378Leu