Canonical Allele Identifier: CA414526126

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148584913A>C (hg19) ; chrX:g.149503383A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503383A>C , CM000685.2:g.149503383A>C	GRCh38
NC_000023.10:g.148584913A>C , CM000685.1:g.148584913A>C	GRCh37
NC_000023.9:g.148392818A>C	NCBI36
NG_011900.3:g.6952T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.347T>G MANE Select	ENSP00000339801.6:p.Phe116Cys
ENST00000651111.1:c.-215-2346T>G	ENSP00000498395.1:n.-215-2346T>G
ENST00000340855.10:c.347T>G	ENSP00000339801.6:p.Phe116Cys
ENST00000370441.8:c.347T>G	ENSP00000359470.4:p.Phe116Cys
ENST00000422081.6:c.-215-2346T>G	ENSP00000477056.1:n.-215-2346T>G
ENST00000427113.2:n.770-1160T>G
ENST00000428056.6:c.347T>G	ENSP00000390241.2:p.Phe116Cys
ENST00000441880.1:n.114-16285T>G
ENST00000464251.5:c.170T>G	ENSP00000428980.1:p.Phe57Cys
ENST00000466323.5:c.347T>G	ENSP00000418264.1:p.Phe116Cys
ENST00000490775.5:n.6T>G
ENST00000523759.5:n.533-2346T>G
NM_000202.6:c.347T>G	NP_000193.1:p.Phe116Cys
NM_001166550.2:c.77T>G	NP_001160022.1:p.Phe26Cys
NM_006123.4:c.347T>G	NP_006114.1:p.Phe116Cys
NR_104128.1:n.564T>G
NM_000202.7:c.347T>G	NP_000193.1:p.Phe116Cys
NM_001166550.3:c.77T>G	NP_001160022.1:p.Phe26Cys
NM_000202.8:c.347T>G MANE Select	NP_000193.1:p.Phe116Cys
NM_001166550.4:c.77T>G	NP_001160022.1:p.Phe26Cys
NM_006123.5:c.347T>G	NP_006114.1:p.Phe116Cys
NR_104128.2:n.516T>G