Canonical Allele Identifier: CA414518842

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148568540T>A (hg19) ; chrX:g.149487009T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149487009T>A , CM000685.2:g.149487009T>A	GRCh38
NC_000023.10:g.148568540T>A , CM000685.1:g.148568540T>A	GRCh37
NC_000023.9:g.148376445T>A	NCBI36
NG_011900.3:g.23326A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1096A>T MANE Select	ENSP00000339801.6:p.Arg366Trp
ENST00000651111.1:c.463A>T	ENSP00000498395.1:p.Arg155Trp
ENST00000340855.10:c.1096A>T	ENSP00000339801.6:p.Arg366Trp
ENST00000422081.6:c.463A>T	ENSP00000477056.1:p.Arg155Trp
ENST00000441880.1:n.203A>T
NM_000202.6:c.1096A>T	NP_000193.1:p.Arg366Trp
NM_001166550.2:c.826A>T	NP_001160022.1:p.Arg276Trp
NM_000202.7:c.1096A>T	NP_000193.1:p.Arg366Trp
NM_001166550.3:c.826A>T	NP_001160022.1:p.Arg276Trp
NM_000202.8:c.1096A>T MANE Select	NP_000193.1:p.Arg366Trp
NM_001166550.4:c.826A>T	NP_001160022.1:p.Arg276Trp