Canonical Allele Identifier: CA414527748

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148585785G>T (hg19) ; chrX:g.149504255G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149504255G>T , CM000685.2:g.149504255G>T	GRCh38
NC_000023.10:g.148585785G>T , CM000685.1:g.148585785G>T	GRCh37
NC_000023.9:g.148393689G>T	NCBI36
NG_011900.3:g.6080C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.142C>A MANE Select	ENSP00000339801.6:p.Arg48Ser
ENST00000651111.1:c.-215-3218C>A	ENSP00000498395.1:n.-215-3218C>A
ENST00000340855.10:c.142C>A	ENSP00000339801.6:p.Arg48Ser
ENST00000370441.8:c.142C>A	ENSP00000359470.4:p.Arg48Ser
ENST00000422081.6:c.-215-3218C>A	ENSP00000477056.1:n.-215-3218C>A
ENST00000427113.2:n.770-2032C>A
ENST00000428056.6:c.142C>A	ENSP00000390241.2:p.Arg48Ser
ENST00000441880.1:n.114-17157C>A
ENST00000466323.5:c.142C>A	ENSP00000418264.1:p.Arg48Ser
ENST00000521702.1:c.142C>A	ENSP00000429745.1:p.Arg48Ser
ENST00000523759.5:n.533-3218C>A
NM_000202.6:c.142C>A	NP_000193.1:p.Arg48Ser
NM_001166550.2:c.-85C>A	NP_001160022.1:n.-85C>A
NM_006123.4:c.142C>A	NP_006114.1:p.Arg48Ser
NR_104128.1:n.359C>A
NM_000202.7:c.142C>A	NP_000193.1:p.Arg48Ser
NM_001166550.3:c.-85C>A	NP_001160022.1:n.-85C>A
NM_000202.8:c.142C>A MANE Select	NP_000193.1:p.Arg48Ser
NM_001166550.4:c.-85C>A	NP_001160022.1:n.-85C>A
NM_006123.5:c.142C>A	NP_006114.1:p.Arg48Ser
NR_104128.2:n.311C>A