Canonical Allele Identifier: CA414522136

Gene: IDS

Linked Data

• COSMIC: COSM4107383 ; COSM4107384 ; COSM4107385
• MyVariant Identifiers: chrX:g.148579643G>T (hg19) ; chrX:g.149498112G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498112G>T , CM000685.2:g.149498112G>T	GRCh38
NC_000023.10:g.148579643G>T , CM000685.1:g.148579643G>T	GRCh37
NC_000023.9:g.148387548G>T	NCBI36
NG_011900.3:g.12223C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.703C>A MANE Select	ENSP00000339801.6:p.Pro235Thr
ENST00000651111.1:c.70C>A	ENSP00000498395.1:p.Pro24Thr
ENST00000340855.10:c.703C>A	ENSP00000339801.6:p.Pro235Thr
ENST00000370441.8:c.703C>A	ENSP00000359470.4:p.Pro235Thr
ENST00000422081.6:c.70C>A	ENSP00000477056.1:p.Pro24Thr
ENST00000441880.1:n.114-11014C>A
ENST00000464251.5:c.629C>A	ENSP00000428980.1:n.629C>A
ENST00000466019.1:n.155C>A
ENST00000466323.5:c.703C>A	ENSP00000418264.1:p.Pro235Thr
ENST00000490775.5:n.488C>A
NM_000202.6:c.703C>A	NP_000193.1:p.Pro235Thr
NM_001166550.2:c.433C>A	NP_001160022.1:p.Pro145Thr
NM_006123.4:c.703C>A	NP_006114.1:p.Pro235Thr
NR_104128.1:n.920C>A
NM_000202.7:c.703C>A	NP_000193.1:p.Pro235Thr
NM_001166550.3:c.433C>A	NP_001160022.1:p.Pro145Thr
NM_000202.8:c.703C>A MANE Select	NP_000193.1:p.Pro235Thr
NM_001166550.4:c.433C>A	NP_001160022.1:p.Pro145Thr
NM_006123.5:c.703C>A	NP_006114.1:p.Pro235Thr
NR_104128.2:n.872C>A