Canonical Allele Identifier: CA872890594

Gene: IDS

Linked Data

• dbSNP Id: rs1243574016
• gnomAD v3: X-149487228-A-C
• gnomAD v4: X-149487228-A-C
• MyVariant Identifiers: chrX:g.149487228A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149487228A>C , CM000685.2:g.149487228A>C	GRCh38
NC_000023.10:g.148568759A>C , CM000685.1:g.148568759A>C	GRCh37
NC_000023.9:g.148376664A>C	NCBI36
NG_011900.3:g.23107T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1007-130T>G MANE Select	ENSP00000339801.6:n.1007-130T>G
ENST00000651111.1:c.374-130T>G	ENSP00000498395.1:n.374-130T>G
ENST00000340855.10:c.1007-130T>G	ENSP00000339801.6:n.1007-130T>G
ENST00000370441.8:c.*60T>G	ENSP00000359470.4:n.*60T>G
ENST00000422081.6:c.374-130T>G	ENSP00000477056.1:n.374-130T>G
ENST00000441880.1:n.114-130T>G
ENST00000466323.5:c.*283T>G	ENSP00000418264.1:n.*283T>G
ENST00000490775.5:n.877T>G
NM_000202.6:c.1007-130T>G	NP_000193.1:n.1007-130T>G
NM_001166550.2:c.737-130T>G	NP_001160022.1:n.737-130T>G
NM_006123.4:c.*60T>G	NP_006114.1:n.*60T>G
NR_104128.1:n.1439T>G
NM_000202.7:c.1007-130T>G	NP_000193.1:n.1007-130T>G
NM_001166550.3:c.737-130T>G	NP_001160022.1:n.737-130T>G
NM_000202.8:c.1007-130T>G MANE Select	NP_000193.1:n.1007-130T>G
NM_001166550.4:c.737-130T>G	NP_001160022.1:n.737-130T>G
NM_006123.5:c.*60T>G	NP_006114.1:n.*60T>G
NR_104128.2:n.1391T>G