Canonical Allele Identifier: CA414520099

Gene: IDS

Linked Data

• ClinVar Variation Id: 985084
• ClinVar RCV Id: RCV001265810 ; RCV001830066 ; RCV001880100
• dbSNP Id: rs2089379111
• gnomAD v4: X-149490362-C-T
• COSMIC: COSM5412170 ; COSM5412171
• MyVariant Identifiers: chrX:g.148571893C>T (hg19) ; chrX:g.149490362C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490362C>T , CM000685.2:g.149490362C>T	GRCh38
NC_000023.10:g.148571893C>T , CM000685.1:g.148571893C>T	GRCh37
NC_000023.9:g.148379798C>T	NCBI36
NG_011900.3:g.19973G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.958G>A MANE Select	ENSP00000339801.6:p.Asp320Asn
ENST00000651111.1:c.325G>A	ENSP00000498395.1:p.Asp109Asn
ENST00000340855.10:c.958G>A	ENSP00000339801.6:p.Asp320Asn
ENST00000370441.8:c.958G>A	ENSP00000359470.4:p.Asp320Asn
ENST00000422081.6:c.325G>A	ENSP00000477056.1:p.Asp109Asn
ENST00000441880.1:n.114-3264G>A
ENST00000464251.5:c.884G>A	ENSP00000428980.1:n.884G>A
ENST00000466323.5:c.*149G>A	ENSP00000418264.1:n.*149G>A
ENST00000490775.5:n.743G>A
NM_000202.6:c.958G>A	NP_000193.1:p.Asp320Asn
NM_001166550.2:c.688G>A	NP_001160022.1:p.Asp230Asn
NM_006123.4:c.958G>A	NP_006114.1:p.Asp320Asn
NR_104128.1:n.1305G>A
NM_000202.7:c.958G>A	NP_000193.1:p.Asp320Asn
NM_001166550.3:c.688G>A	NP_001160022.1:p.Asp230Asn
NM_000202.8:c.958G>A MANE Select	NP_000193.1:p.Asp320Asn
NM_001166550.4:c.688G>A	NP_001160022.1:p.Asp230Asn
NM_006123.5:c.958G>A	NP_006114.1:p.Asp320Asn
NR_104128.2:n.1257G>A