Canonical Allele Identifier: CA414520070

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148571889A>C (hg19) ; chrX:g.149490358A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490358A>C , CM000685.2:g.149490358A>C	GRCh38
NC_000023.10:g.148571889A>C , CM000685.1:g.148571889A>C	GRCh37
NC_000023.9:g.148379794A>C	NCBI36
NG_011900.3:g.19977T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.962T>G MANE Select	ENSP00000339801.6:p.Leu321Arg
ENST00000651111.1:c.329T>G	ENSP00000498395.1:p.Leu110Arg
ENST00000340855.10:c.962T>G	ENSP00000339801.6:p.Leu321Arg
ENST00000370441.8:c.962T>G	ENSP00000359470.4:p.Leu321Arg
ENST00000422081.6:c.329T>G	ENSP00000477056.1:p.Leu110Arg
ENST00000441880.1:n.114-3260T>G
ENST00000464251.5:c.888T>G	ENSP00000428980.1:n.888T>G
ENST00000466323.5:c.*153T>G	ENSP00000418264.1:n.*153T>G
ENST00000490775.5:n.747T>G
NM_000202.6:c.962T>G	NP_000193.1:p.Leu321Arg
NM_001166550.2:c.692T>G	NP_001160022.1:p.Leu231Arg
NM_006123.4:c.962T>G	NP_006114.1:p.Leu321Arg
NR_104128.1:n.1309T>G
NM_000202.7:c.962T>G	NP_000193.1:p.Leu321Arg
NM_001166550.3:c.692T>G	NP_001160022.1:p.Leu231Arg
NM_000202.8:c.962T>G MANE Select	NP_000193.1:p.Leu321Arg
NM_001166550.4:c.692T>G	NP_001160022.1:p.Leu231Arg
NM_006123.5:c.962T>G	NP_006114.1:p.Leu321Arg
NR_104128.2:n.1261T>G