Canonical Allele Identifier: CA414525462

Gene: IDS

Linked Data

• ClinVar Variation Id: 664872
• ClinVar RCV Id: RCV000823054
• dbSNP Id: rs1602748255
• MyVariant Identifiers: chrX:g.148584841C>G (hg19) ; chrX:g.149503311C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503311C>G , CM000685.2:g.149503311C>G	GRCh38
NC_000023.10:g.148584841C>G , CM000685.1:g.148584841C>G	GRCh37
NC_000023.9:g.148392746C>G	NCBI36
NG_011900.3:g.7024G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.418+1G>C MANE Select	ENSP00000339801.6:n.418+1G>C
ENST00000651111.1:c.-215-2274G>C	ENSP00000498395.1:n.-215-2274G>C
ENST00000340855.10:c.418+1G>C	ENSP00000339801.6:n.418+1G>C
ENST00000370441.8:c.418+1G>C	ENSP00000359470.4:n.418+1G>C
ENST00000422081.6:c.-215-2274G>C	ENSP00000477056.1:n.-215-2274G>C
ENST00000427113.2:n.770-1088G>C
ENST00000428056.6:c.419G>C	ENSP00000390241.2:p.Gly140Ala
ENST00000441880.1:n.114-16213G>C
ENST00000464251.5:c.241+1G>C	ENSP00000428980.1:n.241+1G>C
ENST00000466323.5:c.418+1G>C	ENSP00000418264.1:n.418+1G>C
ENST00000490775.5:n.77+1G>C
ENST00000523759.5:n.533-2274G>C
NM_000202.6:c.418+1G>C	NP_000193.1:n.418+1G>C
NM_001166550.2:c.148+1G>C	NP_001160022.1:n.148+1G>C
NM_006123.4:c.418+1G>C	NP_006114.1:n.418+1G>C
NR_104128.1:n.635+1G>C
NM_000202.7:c.418+1G>C	NP_000193.1:n.418+1G>C
NM_001166550.3:c.148+1G>C	NP_001160022.1:n.148+1G>C
NM_000202.8:c.418+1G>C MANE Select	NP_000193.1:n.418+1G>C
NM_001166550.4:c.148+1G>C	NP_001160022.1:n.148+1G>C
NM_006123.5:c.418+1G>C	NP_006114.1:n.418+1G>C
NR_104128.2:n.587+1G>C