Canonical Allele Identifier: CA414519820

Gene: IDS

Linked Data

• ClinVar Variation Id: 2138748
• ClinVar RCV Id: RCV003066392
• MyVariant Identifiers: chrX:g.148571847T>C (hg19) ; chrX:g.149490316T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490316T>C , CM000685.2:g.149490316T>C	GRCh38
NC_000023.10:g.148571847T>C , CM000685.1:g.148571847T>C	GRCh37
NC_000023.9:g.148379752T>C	NCBI36
NG_011900.3:g.20019A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1004A>G MANE Select	ENSP00000339801.6:p.His335Arg
ENST00000651111.1:c.371A>G	ENSP00000498395.1:p.His124Arg
ENST00000340855.10:c.1004A>G	ENSP00000339801.6:p.His335Arg
ENST00000370441.8:c.1004A>G	ENSP00000359470.4:p.His335Arg
ENST00000422081.6:c.371A>G	ENSP00000477056.1:p.His124Arg
ENST00000441880.1:n.114-3218A>G
ENST00000464251.5:c.930A>G	ENSP00000428980.1:n.930A>G
ENST00000466323.5:c.*195A>G	ENSP00000418264.1:n.*195A>G
ENST00000490775.5:n.789A>G
NM_000202.6:c.1004A>G	NP_000193.1:p.His335Arg
NM_001166550.2:c.734A>G	NP_001160022.1:p.His245Arg
NM_006123.4:c.1004A>G	NP_006114.1:p.His335Arg
NR_104128.1:n.1351A>G
NM_000202.7:c.1004A>G	NP_000193.1:p.His335Arg
NM_001166550.3:c.734A>G	NP_001160022.1:p.His245Arg
NM_000202.8:c.1004A>G MANE Select	NP_000193.1:p.His335Arg
NM_001166550.4:c.734A>G	NP_001160022.1:p.His245Arg
NM_006123.5:c.1004A>G	NP_006114.1:p.His335Arg
NR_104128.2:n.1303A>G