Canonical Allele Identifier: CA414518952

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148568591T>A (hg19) ; chrX:g.149487060T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149487060T>A , CM000685.2:g.149487060T>A	GRCh38
NC_000023.10:g.148568591T>A , CM000685.1:g.148568591T>A	GRCh37
NC_000023.9:g.148376496T>A	NCBI36
NG_011900.3:g.23275A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1045A>T MANE Select	ENSP00000339801.6:p.Ser349Cys
ENST00000651111.1:c.412A>T	ENSP00000498395.1:p.Ser138Cys
ENST00000340855.10:c.1045A>T	ENSP00000339801.6:p.Ser349Cys
ENST00000422081.6:c.412A>T	ENSP00000477056.1:p.Ser138Cys
ENST00000441880.1:n.152A>T
NM_000202.6:c.1045A>T	NP_000193.1:p.Ser349Cys
NM_001166550.2:c.775A>T	NP_001160022.1:p.Ser259Cys
NM_000202.7:c.1045A>T	NP_000193.1:p.Ser349Cys
NM_001166550.3:c.775A>T	NP_001160022.1:p.Ser259Cys
NM_000202.8:c.1045A>T MANE Select	NP_000193.1:p.Ser349Cys
NM_001166550.4:c.775A>T	NP_001160022.1:p.Ser259Cys