Canonical Allele Identifier: CA414520293

Gene: IDS

Linked Data

• ClinVar Variation Id: 997010
• ClinVar RCV Id: RCV001564021
• dbSNP Id: rs2124020552
• MyVariant Identifiers: chrX:g.148571928T>C (hg19) ; chrX:g.149490397T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490397T>C , CM000685.2:g.149490397T>C	GRCh38
NC_000023.10:g.148571928T>C , CM000685.1:g.148571928T>C	GRCh37
NC_000023.9:g.148379833T>C	NCBI36
NG_011900.3:g.19938A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.923A>G MANE Select	ENSP00000339801.6:p.Asp308Gly
ENST00000651111.1:c.290A>G	ENSP00000498395.1:p.Asp97Gly
ENST00000340855.10:c.923A>G	ENSP00000339801.6:p.Asp308Gly
ENST00000370441.8:c.923A>G	ENSP00000359470.4:p.Asp308Gly
ENST00000422081.6:c.290A>G	ENSP00000477056.1:p.Asp97Gly
ENST00000441880.1:n.114-3299A>G
ENST00000464251.5:c.849A>G	ENSP00000428980.1:n.849A>G
ENST00000466323.5:c.*114A>G	ENSP00000418264.1:n.*114A>G
ENST00000490775.5:n.708A>G
NM_000202.6:c.923A>G	NP_000193.1:p.Asp308Gly
NM_001166550.2:c.653A>G	NP_001160022.1:p.Asp218Gly
NM_006123.4:c.923A>G	NP_006114.1:p.Asp308Gly
NR_104128.1:n.1270A>G
NM_000202.7:c.923A>G	NP_000193.1:p.Asp308Gly
NM_001166550.3:c.653A>G	NP_001160022.1:p.Asp218Gly
NM_000202.8:c.923A>G MANE Select	NP_000193.1:p.Asp308Gly
NM_001166550.4:c.653A>G	NP_001160022.1:p.Asp218Gly
NM_006123.5:c.923A>G	NP_006114.1:p.Asp308Gly
NR_104128.2:n.1222A>G