Canonical Allele Identifier: CA414523193

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148582541G>A (hg19) ; chrX:g.149501010G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149501010G>A , CM000685.2:g.149501010G>A	GRCh38
NC_000023.10:g.148582541G>A , CM000685.1:g.148582541G>A	GRCh37
NC_000023.9:g.148390446G>A	NCBI36
NG_011900.3:g.9325C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.446C>T MANE Select	ENSP00000339801.6:p.Ser149Phe
ENST00000651111.1:c.-188C>T	ENSP00000498395.1:n.-188C>T
ENST00000340855.10:c.446C>T	ENSP00000339801.6:p.Ser149Phe
ENST00000370441.8:c.446C>T	ENSP00000359470.4:p.Ser149Phe
ENST00000422081.6:c.-188C>T	ENSP00000477056.1:n.-188C>T
ENST00000441880.1:n.114-13912C>T
ENST00000464251.5:c.372C>T	ENSP00000428980.1:n.372C>T
ENST00000466323.5:c.446C>T	ENSP00000418264.1:p.Ser149Phe
ENST00000490775.5:n.105C>T
ENST00000523759.5:n.560C>T
NM_000202.6:c.446C>T	NP_000193.1:p.Ser149Phe
NM_001166550.2:c.176C>T	NP_001160022.1:p.Ser59Phe
NM_006123.4:c.446C>T	NP_006114.1:p.Ser149Phe
NR_104128.1:n.663C>T
NM_000202.7:c.446C>T	NP_000193.1:p.Ser149Phe
NM_001166550.3:c.176C>T	NP_001160022.1:p.Ser59Phe
NM_000202.8:c.446C>T MANE Select	NP_000193.1:p.Ser149Phe
NM_001166550.4:c.176C>T	NP_001160022.1:p.Ser59Phe
NM_006123.5:c.446C>T	NP_006114.1:p.Ser149Phe
NR_104128.2:n.615C>T