Canonical Allele Identifier: CA348624

Gene: IDS

Linked Data

• ClinVar Variation Id: 221201
• ClinVar RCV Id: RCV000204392
• dbSNP Id: rs193302906
• MyVariant Identifiers: chrX:g.148568603A>T (hg19) ; chrX:g.149487072A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149487072A>T , CM000685.2:g.149487072A>T	GRCh38
NC_000023.10:g.148568603A>T , CM000685.1:g.148568603A>T	GRCh37
NC_000023.9:g.148376508A>T	NCBI36
NG_011900.3:g.23263T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1033T>A MANE Select	ENSP00000339801.6:p.Trp345Arg
ENST00000651111.1:c.400T>A	ENSP00000498395.1:p.Trp134Arg
ENST00000340855.10:c.1033T>A	ENSP00000339801.6:p.Trp345Arg
ENST00000422081.6:c.400T>A	ENSP00000477056.1:p.Trp134Arg
ENST00000441880.1:n.140T>A
NM_000202.6:c.1033T>A	NP_000193.1:p.Trp345Arg
NM_001166550.2:c.763T>A	NP_001160022.1:p.Trp255Arg
NM_000202.7:c.1033T>A	NP_000193.1:p.Trp345Arg
NM_001166550.3:c.763T>A	NP_001160022.1:p.Trp255Arg
NM_000202.8:c.1033T>A MANE Select	NP_000193.1:p.Trp345Arg
NM_001166550.4:c.763T>A	NP_001160022.1:p.Trp255Arg