Canonical Allele Identifier: CA414526498

Gene: IDS

Linked Data

• ClinVar Variation Id: 988674
• ClinVar RCV Id: RCV001290998
• dbSNP Id: rs2089496667
• MyVariant Identifiers: chrX:g.148584953A>C (hg19) ; chrX:g.149503423A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503423A>C , CM000685.2:g.149503423A>C	GRCh38
NC_000023.10:g.148584953A>C , CM000685.1:g.148584953A>C	GRCh37
NC_000023.9:g.148392858A>C	NCBI36
NG_011900.3:g.6912T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.307T>G MANE Select	ENSP00000339801.6:p.Tyr103Asp
ENST00000651111.1:c.-215-2386T>G	ENSP00000498395.1:n.-215-2386T>G
ENST00000340855.10:c.307T>G	ENSP00000339801.6:p.Tyr103Asp
ENST00000370441.8:c.307T>G	ENSP00000359470.4:p.Tyr103Asp
ENST00000422081.6:c.-215-2386T>G	ENSP00000477056.1:n.-215-2386T>G
ENST00000427113.2:n.770-1200T>G
ENST00000428056.6:c.307T>G	ENSP00000390241.2:p.Tyr103Asp
ENST00000441880.1:n.114-16325T>G
ENST00000464251.5:c.130T>G	ENSP00000428980.1:p.Tyr44Asp
ENST00000466323.5:c.307T>G	ENSP00000418264.1:p.Tyr103Asp
ENST00000523759.5:n.533-2386T>G
NM_000202.6:c.307T>G	NP_000193.1:p.Tyr103Asp
NM_001166550.2:c.37T>G	NP_001160022.1:p.Tyr13Asp
NM_006123.4:c.307T>G	NP_006114.1:p.Tyr103Asp
NR_104128.1:n.524T>G
NM_000202.7:c.307T>G	NP_000193.1:p.Tyr103Asp
NM_001166550.3:c.37T>G	NP_001160022.1:p.Tyr13Asp
NM_000202.8:c.307T>G MANE Select	NP_000193.1:p.Tyr103Asp
NM_001166550.4:c.37T>G	NP_001160022.1:p.Tyr13Asp
NM_006123.5:c.307T>G	NP_006114.1:p.Tyr103Asp
NR_104128.2:n.476T>G