Canonical Allele Identifier: CA414520218

Gene: IDS

Linked Data

• COSMIC: COSM5769012 ; COSM5769013
• MyVariant Identifiers: chrX:g.148571914G>C (hg19) ; chrX:g.149490383G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490383G>C , CM000685.2:g.149490383G>C	GRCh38
NC_000023.10:g.148571914G>C , CM000685.1:g.148571914G>C	GRCh37
NC_000023.9:g.148379819G>C	NCBI36
NG_011900.3:g.19952C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.937C>G MANE Select	ENSP00000339801.6:p.Arg313Gly
ENST00000651111.1:c.304C>G	ENSP00000498395.1:p.Arg102Gly
ENST00000340855.10:c.937C>G	ENSP00000339801.6:p.Arg313Gly
ENST00000370441.8:c.937C>G	ENSP00000359470.4:p.Arg313Gly
ENST00000422081.6:c.304C>G	ENSP00000477056.1:p.Arg102Gly
ENST00000441880.1:n.114-3285C>G
ENST00000464251.5:c.863C>G	ENSP00000428980.1:n.863C>G
ENST00000466323.5:c.*128C>G	ENSP00000418264.1:n.*128C>G
ENST00000490775.5:n.722C>G
NM_000202.6:c.937C>G	NP_000193.1:p.Arg313Gly
NM_001166550.2:c.667C>G	NP_001160022.1:p.Arg223Gly
NM_006123.4:c.937C>G	NP_006114.1:p.Arg313Gly
NR_104128.1:n.1284C>G
NM_000202.7:c.937C>G	NP_000193.1:p.Arg313Gly
NM_001166550.3:c.667C>G	NP_001160022.1:p.Arg223Gly
NM_000202.8:c.937C>G MANE Select	NP_000193.1:p.Arg313Gly
NM_001166550.4:c.667C>G	NP_001160022.1:p.Arg223Gly
NM_006123.5:c.937C>G	NP_006114.1:p.Arg313Gly
NR_104128.2:n.1236C>G