Canonical Allele Identifier: CA414520441

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148571952T>C (hg19) ; chrX:g.149490421T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490421T>C , CM000685.2:g.149490421T>C	GRCh38
NC_000023.10:g.148571952T>C , CM000685.1:g.148571952T>C	GRCh37
NC_000023.9:g.148379857T>C	NCBI36
NG_011900.3:g.19914A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.899A>G MANE Select	ENSP00000339801.6:p.Tyr300Cys
ENST00000651111.1:c.266A>G	ENSP00000498395.1:p.Tyr89Cys
ENST00000340855.10:c.899A>G	ENSP00000339801.6:p.Tyr300Cys
ENST00000370441.8:c.899A>G	ENSP00000359470.4:p.Tyr300Cys
ENST00000422081.6:c.266A>G	ENSP00000477056.1:p.Tyr89Cys
ENST00000441880.1:n.114-3323A>G
ENST00000464251.5:c.825A>G	ENSP00000428980.1:n.825A>G
ENST00000466323.5:c.*90A>G	ENSP00000418264.1:n.*90A>G
ENST00000490775.5:n.684A>G
NM_000202.6:c.899A>G	NP_000193.1:p.Tyr300Cys
NM_001166550.2:c.629A>G	NP_001160022.1:p.Tyr210Cys
NM_006123.4:c.899A>G	NP_006114.1:p.Tyr300Cys
NR_104128.1:n.1246A>G
NM_000202.7:c.899A>G	NP_000193.1:p.Tyr300Cys
NM_001166550.3:c.629A>G	NP_001160022.1:p.Tyr210Cys
NM_000202.8:c.899A>G MANE Select	NP_000193.1:p.Tyr300Cys
NM_001166550.4:c.629A>G	NP_001160022.1:p.Tyr210Cys
NM_006123.5:c.899A>G	NP_006114.1:p.Tyr300Cys
NR_104128.2:n.1198A>G