Canonical Allele Identifier: CA414522177

Gene: IDS

Linked Data

• ClinVar Variation Id: 2440836
• ClinVar RCV Id: RCV003146137
• MyVariant Identifiers: chrX:g.148579661G>A (hg19) ; chrX:g.149498130G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498130G>A , CM000685.2:g.149498130G>A	GRCh38
NC_000023.10:g.148579661G>A , CM000685.1:g.148579661G>A	GRCh37
NC_000023.9:g.148387566G>A	NCBI36
NG_011900.3:g.12205C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.685C>T MANE Select	ENSP00000339801.6:p.His229Tyr
ENST00000651111.1:c.52C>T	ENSP00000498395.1:p.His18Tyr
ENST00000340855.10:c.685C>T	ENSP00000339801.6:p.His229Tyr
ENST00000370441.8:c.685C>T	ENSP00000359470.4:p.His229Tyr
ENST00000422081.6:c.52C>T	ENSP00000477056.1:p.His18Tyr
ENST00000441880.1:n.114-11032C>T
ENST00000464251.5:c.611C>T	ENSP00000428980.1:n.611C>T
ENST00000466019.1:n.137C>T
ENST00000466323.5:c.685C>T	ENSP00000418264.1:p.His229Tyr
ENST00000490775.5:n.470C>T
NM_000202.6:c.685C>T	NP_000193.1:p.His229Tyr
NM_001166550.2:c.415C>T	NP_001160022.1:p.His139Tyr
NM_006123.4:c.685C>T	NP_006114.1:p.His229Tyr
NR_104128.1:n.902C>T
NM_000202.7:c.685C>T	NP_000193.1:p.His229Tyr
NM_001166550.3:c.415C>T	NP_001160022.1:p.His139Tyr
NM_000202.8:c.685C>T MANE Select	NP_000193.1:p.His229Tyr
NM_001166550.4:c.415C>T	NP_001160022.1:p.His139Tyr
NM_006123.5:c.685C>T	NP_006114.1:p.His229Tyr
NR_104128.2:n.854C>T