Canonical Allele Identifier: CA414522138

Gene: IDS

Linked Data

• ClinVar Variation Id: 570827
• ClinVar RCV Id: RCV000691787
• dbSNP Id: rs1569560489
• MyVariant Identifiers: chrX:g.148579644G>T (hg19) ; chrX:g.149498113G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498113G>T , CM000685.2:g.149498113G>T	GRCh38
NC_000023.10:g.148579644G>T , CM000685.1:g.148579644G>T	GRCh37
NC_000023.9:g.148387549G>T	NCBI36
NG_011900.3:g.12222C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.702C>A MANE Select	ENSP00000339801.6:p.Tyr234Ter
ENST00000651111.1:c.69C>A	ENSP00000498395.1:p.Tyr23Ter
ENST00000340855.10:c.702C>A	ENSP00000339801.6:p.Tyr234Ter
ENST00000370441.8:c.702C>A	ENSP00000359470.4:p.Tyr234Ter
ENST00000422081.6:c.69C>A	ENSP00000477056.1:p.Tyr23Ter
ENST00000441880.1:n.114-11015C>A
ENST00000464251.5:c.628C>A	ENSP00000428980.1:n.628C>A
ENST00000466019.1:n.154C>A
ENST00000466323.5:c.702C>A	ENSP00000418264.1:p.Tyr234Ter
ENST00000490775.5:n.487C>A
NM_000202.6:c.702C>A	NP_000193.1:p.Tyr234Ter
NM_001166550.2:c.432C>A	NP_001160022.1:p.Tyr144Ter
NM_006123.4:c.702C>A	NP_006114.1:p.Tyr234Ter
NR_104128.1:n.919C>A
NM_000202.7:c.702C>A	NP_000193.1:p.Tyr234Ter
NM_001166550.3:c.432C>A	NP_001160022.1:p.Tyr144Ter
NM_000202.8:c.702C>A MANE Select	NP_000193.1:p.Tyr234Ter
NM_001166550.4:c.432C>A	NP_001160022.1:p.Tyr144Ter
NM_006123.5:c.702C>A	NP_006114.1:p.Tyr234Ter
NR_104128.2:n.871C>A