Canonical Allele Identifier: CA10537643

Gene: IDS

Linked Data

• ClinVar Variation Id: 2818745
• ClinVar RCV Id: RCV003622710
• dbSNP Id: rs782357858
• ExAC: X:148579846 A / C
• gnomAD v2: X-148579846-A-C
• gnomAD v3: X-149498315-A-C
• gnomAD v4: X-149498315-A-C
• MyVariant Identifiers: chrX:g.148579846A>C (hg19) ; chrX:g.149498315A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498315A>C , CM000685.2:g.149498315A>C	GRCh38
NC_000023.10:g.148579846A>C , CM000685.1:g.148579846A>C	GRCh37
NC_000023.9:g.148387751A>C	NCBI36
NG_011900.3:g.12020T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.508-8T>G MANE Select	ENSP00000339801.6:n.508-8T>G
ENST00000651111.1:c.-126-8T>G	ENSP00000498395.1:n.-126-8T>G
ENST00000340855.10:c.508-8T>G	ENSP00000339801.6:n.508-8T>G
ENST00000370441.8:c.508-8T>G	ENSP00000359470.4:n.508-8T>G
ENST00000422081.6:c.-126-8T>G	ENSP00000477056.1:n.-126-8T>G
ENST00000441880.1:n.114-11217T>G
ENST00000464251.5:c.434-8T>G	ENSP00000428980.1:n.434-8T>G
ENST00000466323.5:c.508-8T>G	ENSP00000418264.1:n.508-8T>G
ENST00000490775.5:n.293-8T>G
ENST00000523759.5:n.622-8T>G
NM_000202.6:c.508-8T>G	NP_000193.1:n.508-8T>G
NM_001166550.2:c.238-8T>G	NP_001160022.1:n.238-8T>G
NM_006123.4:c.508-8T>G	NP_006114.1:n.508-8T>G
NR_104128.1:n.725-8T>G
NM_000202.7:c.508-8T>G	NP_000193.1:n.508-8T>G
NM_001166550.3:c.238-8T>G	NP_001160022.1:n.238-8T>G
NM_000202.8:c.508-8T>G MANE Select	NP_000193.1:n.508-8T>G
NM_001166550.4:c.238-8T>G	NP_001160022.1:n.238-8T>G
NM_006123.5:c.508-8T>G	NP_006114.1:n.508-8T>G
NR_104128.2:n.677-8T>G