Canonical Allele Identifier: CA414520332

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148571934T>A (hg19) ; chrX:g.149490403T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490403T>A , CM000685.2:g.149490403T>A	GRCh38
NC_000023.10:g.148571934T>A , CM000685.1:g.148571934T>A	GRCh37
NC_000023.9:g.148379839T>A	NCBI36
NG_011900.3:g.19932A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.917A>T MANE Select	ENSP00000339801.6:p.Tyr306Phe
ENST00000651111.1:c.284A>T	ENSP00000498395.1:p.Tyr95Phe
ENST00000340855.10:c.917A>T	ENSP00000339801.6:p.Tyr306Phe
ENST00000370441.8:c.917A>T	ENSP00000359470.4:p.Tyr306Phe
ENST00000422081.6:c.284A>T	ENSP00000477056.1:p.Tyr95Phe
ENST00000441880.1:n.114-3305A>T
ENST00000464251.5:c.843A>T	ENSP00000428980.1:n.843A>T
ENST00000466323.5:c.*108A>T	ENSP00000418264.1:n.*108A>T
ENST00000490775.5:n.702A>T
NM_000202.6:c.917A>T	NP_000193.1:p.Tyr306Phe
NM_001166550.2:c.647A>T	NP_001160022.1:p.Tyr216Phe
NM_006123.4:c.917A>T	NP_006114.1:p.Tyr306Phe
NR_104128.1:n.1264A>T
NM_000202.7:c.917A>T	NP_000193.1:p.Tyr306Phe
NM_001166550.3:c.647A>T	NP_001160022.1:p.Tyr216Phe
NM_000202.8:c.917A>T MANE Select	NP_000193.1:p.Tyr306Phe
NM_001166550.4:c.647A>T	NP_001160022.1:p.Tyr216Phe
NM_006123.5:c.917A>T	NP_006114.1:p.Tyr306Phe
NR_104128.2:n.1216A>T