Canonical Allele Identifier: CA414522205

Gene: IDS

Linked Data

• ClinVar Variation Id: 2161114
• ClinVar RCV Id: RCV003087881
• gnomAD v4: X-149498141-T-C
• MyVariant Identifiers: chrX:g.148579672T>C (hg19) ; chrX:g.149498141T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498141T>C , CM000685.2:g.149498141T>C	GRCh38
NC_000023.10:g.148579672T>C , CM000685.1:g.148579672T>C	GRCh37
NC_000023.9:g.148387577T>C	NCBI36
NG_011900.3:g.12194A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.674A>G MANE Select	ENSP00000339801.6:p.Tyr225Cys
ENST00000651111.1:c.41A>G	ENSP00000498395.1:p.Tyr14Cys
ENST00000340855.10:c.674A>G	ENSP00000339801.6:p.Tyr225Cys
ENST00000370441.8:c.674A>G	ENSP00000359470.4:p.Tyr225Cys
ENST00000422081.6:c.41A>G	ENSP00000477056.1:p.Tyr14Cys
ENST00000441880.1:n.114-11043A>G
ENST00000464251.5:c.600A>G	ENSP00000428980.1:n.600A>G
ENST00000466019.1:n.126A>G
ENST00000466323.5:c.674A>G	ENSP00000418264.1:p.Tyr225Cys
ENST00000490775.5:n.459A>G
NM_000202.6:c.674A>G	NP_000193.1:p.Tyr225Cys
NM_001166550.2:c.404A>G	NP_001160022.1:p.Tyr135Cys
NM_006123.4:c.674A>G	NP_006114.1:p.Tyr225Cys
NR_104128.1:n.891A>G
NM_000202.7:c.674A>G	NP_000193.1:p.Tyr225Cys
NM_001166550.3:c.404A>G	NP_001160022.1:p.Tyr135Cys
NM_000202.8:c.674A>G MANE Select	NP_000193.1:p.Tyr225Cys
NM_001166550.4:c.404A>G	NP_001160022.1:p.Tyr135Cys
NM_006123.5:c.674A>G	NP_006114.1:p.Tyr225Cys
NR_104128.2:n.843A>G