Canonical Allele Identifier: CA356946

Gene: IDS

Linked Data

• ClinVar Variation Id: 221971
• ClinVar RCV Id: RCV000207368
• dbSNP Id: rs869025302
• MyVariant Identifiers: chrX:g.148571848G>A (hg19) ; chrX:g.149490317G>A (hg38)
• PubMed: PMID:26762690

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490317G>A , CM000685.2:g.149490317G>A	GRCh38
NC_000023.10:g.148571848G>A , CM000685.1:g.148571848G>A	GRCh37
NC_000023.9:g.148379753G>A	NCBI36
NG_011900.3:g.20018C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.1003C>T MANE Select	ENSP00000339801.6:p.His335Tyr
ENST00000651111.1:c.370C>T	ENSP00000498395.1:p.His124Tyr
ENST00000340855.10:c.1003C>T	ENSP00000339801.6:p.His335Tyr
ENST00000370441.8:c.1003C>T	ENSP00000359470.4:p.His335Tyr
ENST00000422081.6:c.370C>T	ENSP00000477056.1:p.His124Tyr
ENST00000441880.1:n.114-3219C>T
ENST00000464251.5:c.929C>T	ENSP00000428980.1:n.929C>T
ENST00000466323.5:c.*194C>T	ENSP00000418264.1:n.*194C>T
ENST00000490775.5:n.788C>T
NM_000202.6:c.1003C>T	NP_000193.1:p.His335Tyr
NM_001166550.2:c.733C>T	NP_001160022.1:p.His245Tyr
NM_006123.4:c.1003C>T	NP_006114.1:p.His335Tyr
NR_104128.1:n.1350C>T
NM_000202.7:c.1003C>T	NP_000193.1:p.His335Tyr
NM_001166550.3:c.733C>T	NP_001160022.1:p.His245Tyr
NM_000202.8:c.1003C>T MANE Select	NP_000193.1:p.His335Tyr
NM_001166550.4:c.733C>T	NP_001160022.1:p.His245Tyr
NM_006123.5:c.1003C>T	NP_006114.1:p.His335Tyr
NR_104128.2:n.1302C>T