Canonical Allele Identifier: CA10537658

Gene: IDS

Linked Data

• ClinVar Variation Id: 624448
• ClinVar RCV Id: RCV000762676 ; RCV001083047 ; RCV002332544 ; RCV001825511
• dbSNP Id: rs146846763
• ExAC: X:148582542 A / C
• gnomAD v2: X-148582542-A-C
• gnomAD v3: X-149501011-A-C
• gnomAD v4: X-149501011-A-C
• MyVariant Identifiers: chrX:g.148582542A>C (hg19) ; chrX:g.149501011A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149501011A>C , CM000685.2:g.149501011A>C	GRCh38
NC_000023.10:g.148582542A>C , CM000685.1:g.148582542A>C	GRCh37
NC_000023.9:g.148390447A>C	NCBI36
NG_011900.3:g.9324T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.445T>G MANE Select	ENSP00000339801.6:p.Ser149Ala
ENST00000651111.1:c.-189T>G	ENSP00000498395.1:n.-189T>G
ENST00000340855.10:c.445T>G	ENSP00000339801.6:p.Ser149Ala
ENST00000370441.8:c.445T>G	ENSP00000359470.4:p.Ser149Ala
ENST00000422081.6:c.-189T>G	ENSP00000477056.1:n.-189T>G
ENST00000441880.1:n.114-13913T>G
ENST00000464251.5:c.371T>G	ENSP00000428980.1:n.371T>G
ENST00000466323.5:c.445T>G	ENSP00000418264.1:p.Ser149Ala
ENST00000490775.5:n.104T>G
ENST00000523759.5:n.559T>G
NM_000202.6:c.445T>G	NP_000193.1:p.Ser149Ala
NM_001166550.2:c.175T>G	NP_001160022.1:p.Ser59Ala
NM_006123.4:c.445T>G	NP_006114.1:p.Ser149Ala
NR_104128.1:n.662T>G
NM_000202.7:c.445T>G	NP_000193.1:p.Ser149Ala
NM_001166550.3:c.175T>G	NP_001160022.1:p.Ser59Ala
NM_000202.8:c.445T>G MANE Select	NP_000193.1:p.Ser149Ala
NM_001166550.4:c.175T>G	NP_001160022.1:p.Ser59Ala
NM_006123.5:c.445T>G	NP_006114.1:p.Ser149Ala
NR_104128.2:n.614T>G