Canonical Allele Identifier: CA414526958

Gene: IDS

Linked Data

• ClinVar Variation Id: 598951
• ClinVar RCV Id: RCV000735294 ; RCV002535424
• dbSNP Id: rs1569560525
• MyVariant Identifiers: chrX:g.148585012A>C (hg19) ; chrX:g.149503482A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503482A>C , CM000685.2:g.149503482A>C	GRCh38
NC_000023.10:g.148585012A>C , CM000685.1:g.148585012A>C	GRCh37
NC_000023.9:g.148392917A>C	NCBI36
NG_011900.3:g.6853T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.248T>G MANE Select	ENSP00000339801.6:p.Val83Gly
ENST00000651111.1:c.-215-2445T>G	ENSP00000498395.1:n.-215-2445T>G
ENST00000340855.10:c.248T>G	ENSP00000339801.6:p.Val83Gly
ENST00000370441.8:c.248T>G	ENSP00000359470.4:p.Val83Gly
ENST00000422081.6:c.-215-2445T>G	ENSP00000477056.1:n.-215-2445T>G
ENST00000427113.2:n.770-1259T>G
ENST00000428056.6:c.248T>G	ENSP00000390241.2:p.Val83Gly
ENST00000441880.1:n.114-16384T>G
ENST00000464251.5:c.71T>G	ENSP00000428980.1:p.Val24Gly
ENST00000466323.5:c.248T>G	ENSP00000418264.1:p.Val83Gly
ENST00000521702.1:c.248T>G	ENSP00000429745.1:p.Val83Gly
ENST00000523759.5:n.533-2445T>G
NM_000202.6:c.248T>G	NP_000193.1:p.Val83Gly
NM_001166550.2:c.15-37T>G	NP_001160022.1:n.15-37T>G
NM_006123.4:c.248T>G	NP_006114.1:p.Val83Gly
NR_104128.1:n.465T>G
NM_000202.7:c.248T>G	NP_000193.1:p.Val83Gly
NM_001166550.3:c.15-37T>G	NP_001160022.1:n.15-37T>G
NM_000202.8:c.248T>G MANE Select	NP_000193.1:p.Val83Gly
NM_001166550.4:c.15-37T>G	NP_001160022.1:n.15-37T>G
NM_006123.5:c.248T>G	NP_006114.1:p.Val83Gly
NR_104128.2:n.417T>G