Canonical Allele Identifier: CA519058241

Gene: IDS

Linked Data

• ClinVar Variation Id: 2020785
• ClinVar RCV Id: RCV002857540
• dbSNP Id: rs2089450158
• MyVariant Identifiers: chrX:g.148579647T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498116T>C , CM000685.2:g.149498116T>C	GRCh38
NC_000023.10:g.148579647T>C , CM000685.1:g.148579647T>C	GRCh37
NC_000023.9:g.148387552T>C	NCBI36
NG_011900.3:g.12219A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.699A>G MANE Select	ENSP00000339801.6:p.Arg233=
ENST00000651111.1:c.66A>G	ENSP00000498395.1:p.Arg22=
ENST00000340855.10:c.699A>G	ENSP00000339801.6:p.Arg233=
ENST00000370441.8:c.699A>G	ENSP00000359470.4:p.Arg233=
ENST00000422081.6:c.66A>G	ENSP00000477056.1:p.Arg22=
ENST00000441880.1:n.114-11018A>G
ENST00000464251.5:c.625A>G	ENSP00000428980.1:n.625A>G
ENST00000466019.1:n.151A>G
ENST00000466323.5:c.699A>G	ENSP00000418264.1:p.Arg233=
ENST00000490775.5:n.484A>G
NM_000202.6:c.699A>G	NP_000193.1:p.Arg233=
NM_001166550.2:c.429A>G	NP_001160022.1:p.Arg143=
NM_006123.4:c.699A>G	NP_006114.1:p.Arg233=
NR_104128.1:n.916A>G
NM_000202.7:c.699A>G	NP_000193.1:p.Arg233=
NM_001166550.3:c.429A>G	NP_001160022.1:p.Arg143=
NM_000202.8:c.699A>G MANE Select	NP_000193.1:p.Arg233=
NM_001166550.4:c.429A>G	NP_001160022.1:p.Arg143=
NM_006123.5:c.699A>G	NP_006114.1:p.Arg233=
NR_104128.2:n.868A>G