Canonical Allele Identifier: CA10537546

Gene: IDS

Linked Data

• ClinVar Variation Id: 771625
• ClinVar RCV Id: RCV000950974 ; RCV001832196 ; RCV003943027
• dbSNP Id: rs201048643
• ExAC: X:148571914 G / A
• gnomAD v2: X-148571914-G-A
• gnomAD v3: X-149490383-G-A
• gnomAD v4: X-149490383-G-A
• MyVariant Identifiers: chrX:g.148571914G>A (hg19) ; chrX:g.149490383G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.937C>T MANE Select	ENSP00000339801.6:p.Arg313Cys
ENST00000651111.1:c.304C>T	ENSP00000498395.1:p.Arg102Cys
ENST00000340855.10:c.937C>T	ENSP00000339801.6:p.Arg313Cys
ENST00000370441.8:c.937C>T	ENSP00000359470.4:p.Arg313Cys
ENST00000422081.6:c.304C>T	ENSP00000477056.1:p.Arg102Cys
ENST00000441880.1:n.114-3285C>T
ENST00000464251.5:c.863C>T	ENSP00000428980.1:n.863C>T
ENST00000466323.5:c.*128C>T	ENSP00000418264.1:n.*128C>T
ENST00000490775.5:n.722C>T
NM_000202.6:c.937C>T	NP_000193.1:p.Arg313Cys
NM_001166550.2:c.667C>T	NP_001160022.1:p.Arg223Cys
NM_006123.4:c.937C>T	NP_006114.1:p.Arg313Cys
NR_104128.1:n.1284C>T
NM_000202.7:c.937C>T	NP_000193.1:p.Arg313Cys
NM_001166550.3:c.667C>T	NP_001160022.1:p.Arg223Cys
NM_000202.8:c.937C>T MANE Select	NP_000193.1:p.Arg313Cys
NM_001166550.4:c.667C>T	NP_001160022.1:p.Arg223Cys
NM_006123.5:c.937C>T	NP_006114.1:p.Arg313Cys
NR_104128.2:n.1236C>T