Canonical Allele Identifier: CA414522526

Gene: IDS

Linked Data

• ClinVar Variation Id: 589539
• ClinVar RCV Id: RCV000719615
• dbSNP Id: rs1569560492
• MyVariant Identifiers: chrX:g.148579804T>C (hg19) ; chrX:g.149498273T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498273T>C , CM000685.2:g.149498273T>C	GRCh38
NC_000023.10:g.148579804T>C , CM000685.1:g.148579804T>C	GRCh37
NC_000023.9:g.148387709T>C	NCBI36
NG_011900.3:g.12062A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.542A>G MANE Select	ENSP00000339801.6:p.Asn181Ser
ENST00000651111.1:c.-92A>G	ENSP00000498395.1:n.-92A>G
ENST00000340855.10:c.542A>G	ENSP00000339801.6:p.Asn181Ser
ENST00000370441.8:c.542A>G	ENSP00000359470.4:p.Asn181Ser
ENST00000422081.6:c.-92A>G	ENSP00000477056.1:n.-92A>G
ENST00000441880.1:n.114-11175A>G
ENST00000464251.5:c.468A>G	ENSP00000428980.1:n.468A>G
ENST00000466323.5:c.542A>G	ENSP00000418264.1:p.Asn181Ser
ENST00000490775.5:n.327A>G
ENST00000523759.5:n.656A>G
NM_000202.6:c.542A>G	NP_000193.1:p.Asn181Ser
NM_001166550.2:c.272A>G	NP_001160022.1:p.Asn91Ser
NM_006123.4:c.542A>G	NP_006114.1:p.Asn181Ser
NR_104128.1:n.759A>G
NM_000202.7:c.542A>G	NP_000193.1:p.Asn181Ser
NM_001166550.3:c.272A>G	NP_001160022.1:p.Asn91Ser
NM_000202.8:c.542A>G MANE Select	NP_000193.1:p.Asn181Ser
NM_001166550.4:c.272A>G	NP_001160022.1:p.Asn91Ser
NM_006123.5:c.542A>G	NP_006114.1:p.Asn181Ser
NR_104128.2:n.711A>G