Canonical Allele Identifier: CA10537543

Gene: IDS

Linked Data

• ClinVar Variation Id: 1091480
• ClinVar RCV Id: RCV001411013
• dbSNP Id: rs782549285
• ExAC: X:148571896 C / T
• gnomAD v2: X-148571896-C-T
• gnomAD v3: X-149490365-C-T
• gnomAD v4: X-149490365-C-T
• MyVariant Identifiers: chrX:g.148571896C>T (hg19) ; chrX:g.149490365C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490365C>T , CM000685.2:g.149490365C>T	GRCh38
NC_000023.10:g.148571896C>T , CM000685.1:g.148571896C>T	GRCh37
NC_000023.9:g.148379801C>T	NCBI36
NG_011900.3:g.19970G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.955G>A MANE Select	ENSP00000339801.6:p.Asp319Asn
ENST00000651111.1:c.322G>A	ENSP00000498395.1:p.Asp108Asn
ENST00000340855.10:c.955G>A	ENSP00000339801.6:p.Asp319Asn
ENST00000370441.8:c.955G>A	ENSP00000359470.4:p.Asp319Asn
ENST00000422081.6:c.322G>A	ENSP00000477056.1:p.Asp108Asn
ENST00000441880.1:n.114-3267G>A
ENST00000464251.5:c.881G>A	ENSP00000428980.1:n.881G>A
ENST00000466323.5:c.*146G>A	ENSP00000418264.1:n.*146G>A
ENST00000490775.5:n.740G>A
NM_000202.6:c.955G>A	NP_000193.1:p.Asp319Asn
NM_001166550.2:c.685G>A	NP_001160022.1:p.Asp229Asn
NM_006123.4:c.955G>A	NP_006114.1:p.Asp319Asn
NR_104128.1:n.1302G>A
NM_000202.7:c.955G>A	NP_000193.1:p.Asp319Asn
NM_001166550.3:c.685G>A	NP_001160022.1:p.Asp229Asn
NM_000202.8:c.955G>A MANE Select	NP_000193.1:p.Asp319Asn
NM_001166550.4:c.685G>A	NP_001160022.1:p.Asp229Asn
NM_006123.5:c.955G>A	NP_006114.1:p.Asp319Asn
NR_104128.2:n.1254G>A