Canonical Allele Identifier: CA414522547

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148579813A>C (hg19) ; chrX:g.149498282A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498282A>C , CM000685.2:g.149498282A>C	GRCh38
NC_000023.10:g.148579813A>C , CM000685.1:g.148579813A>C	GRCh37
NC_000023.9:g.148387718A>C	NCBI36
NG_011900.3:g.12053T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.533T>G MANE Select	ENSP00000339801.6:p.Leu178Arg
ENST00000651111.1:c.-101T>G	ENSP00000498395.1:n.-101T>G
ENST00000340855.10:c.533T>G	ENSP00000339801.6:p.Leu178Arg
ENST00000370441.8:c.533T>G	ENSP00000359470.4:p.Leu178Arg
ENST00000422081.6:c.-101T>G	ENSP00000477056.1:n.-101T>G
ENST00000441880.1:n.114-11184T>G
ENST00000464251.5:c.459T>G	ENSP00000428980.1:n.459T>G
ENST00000466323.5:c.533T>G	ENSP00000418264.1:p.Leu178Arg
ENST00000490775.5:n.318T>G
ENST00000523759.5:n.647T>G
NM_000202.6:c.533T>G	NP_000193.1:p.Leu178Arg
NM_001166550.2:c.263T>G	NP_001160022.1:p.Leu88Arg
NM_006123.4:c.533T>G	NP_006114.1:p.Leu178Arg
NR_104128.1:n.750T>G
NM_000202.7:c.533T>G	NP_000193.1:p.Leu178Arg
NM_001166550.3:c.263T>G	NP_001160022.1:p.Leu88Arg
NM_000202.8:c.533T>G MANE Select	NP_000193.1:p.Leu178Arg
NM_001166550.4:c.263T>G	NP_001160022.1:p.Leu88Arg
NM_006123.5:c.533T>G	NP_006114.1:p.Leu178Arg
NR_104128.2:n.702T>G