Canonical Allele Identifier: CA414522121

Gene: IDS

Linked Data

• ClinVar Variation Id: 854324
• ClinVar RCV Id: RCV001059349
• dbSNP Id: rs864622778
• MyVariant Identifiers: chrX:g.148579637C>A (hg19) ; chrX:g.149498106C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498106C>A , CM000685.2:g.149498106C>A	GRCh38
NC_000023.10:g.148579637C>A , CM000685.1:g.148579637C>A	GRCh37
NC_000023.9:g.148387542C>A	NCBI36
NG_011900.3:g.12229G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.708+1G>T MANE Select	ENSP00000339801.6:n.708+1G>T
ENST00000651111.1:c.75+1G>T	ENSP00000498395.1:n.75+1G>T
ENST00000340855.10:c.708+1G>T	ENSP00000339801.6:n.708+1G>T
ENST00000370441.8:c.708+1G>T	ENSP00000359470.4:n.708+1G>T
ENST00000422081.6:c.75+1G>T	ENSP00000477056.1:n.75+1G>T
ENST00000441880.1:n.114-11008G>T
ENST00000464251.5:c.634+1G>T	ENSP00000428980.1:n.634+1G>T
ENST00000466019.1:n.160+1G>T
ENST00000466323.5:c.708+1G>T	ENSP00000418264.1:n.708+1G>T
ENST00000490775.5:n.493+1G>T
NM_000202.6:c.708+1G>T	NP_000193.1:n.708+1G>T
NM_001166550.2:c.438+1G>T	NP_001160022.1:n.438+1G>T
NM_006123.4:c.708+1G>T	NP_006114.1:n.708+1G>T
NR_104128.1:n.925+1G>T
NM_000202.7:c.708+1G>T	NP_000193.1:n.708+1G>T
NM_001166550.3:c.438+1G>T	NP_001160022.1:n.438+1G>T
NM_000202.8:c.708+1G>T MANE Select	NP_000193.1:n.708+1G>T
NM_001166550.4:c.438+1G>T	NP_001160022.1:n.438+1G>T
NM_006123.5:c.708+1G>T	NP_006114.1:n.708+1G>T
NR_104128.2:n.877+1G>T