Canonical Allele Identifier: CA414526091

Gene: IDS

Linked Data

• ClinVar Variation Id: 1420774
• ClinVar RCV Id: RCV001923583
• dbSNP Id: rs2089496220
• gnomAD v3: X-149503378-T-A
• gnomAD v4: X-149503378-T-A
• MyVariant Identifiers: chrX:g.148584908T>A (hg19) ; chrX:g.149503378T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503378T>A , CM000685.2:g.149503378T>A	GRCh38
NC_000023.10:g.148584908T>A , CM000685.1:g.148584908T>A	GRCh37
NC_000023.9:g.148392813T>A	NCBI36
NG_011900.3:g.6957A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.352A>T MANE Select	ENSP00000339801.6:p.Thr118Ser
ENST00000651111.1:c.-215-2341A>T	ENSP00000498395.1:n.-215-2341A>T
ENST00000340855.10:c.352A>T	ENSP00000339801.6:p.Thr118Ser
ENST00000370441.8:c.352A>T	ENSP00000359470.4:p.Thr118Ser
ENST00000422081.6:c.-215-2341A>T	ENSP00000477056.1:n.-215-2341A>T
ENST00000427113.2:n.770-1155A>T
ENST00000428056.6:c.352A>T	ENSP00000390241.2:p.Thr118Ser
ENST00000441880.1:n.114-16280A>T
ENST00000464251.5:c.175A>T	ENSP00000428980.1:p.Thr59Ser
ENST00000466323.5:c.352A>T	ENSP00000418264.1:p.Thr118Ser
ENST00000490775.5:n.11A>T
ENST00000523759.5:n.533-2341A>T
NM_000202.6:c.352A>T	NP_000193.1:p.Thr118Ser
NM_001166550.2:c.82A>T	NP_001160022.1:p.Thr28Ser
NM_006123.4:c.352A>T	NP_006114.1:p.Thr118Ser
NR_104128.1:n.569A>T
NM_000202.7:c.352A>T	NP_000193.1:p.Thr118Ser
NM_001166550.3:c.82A>T	NP_001160022.1:p.Thr28Ser
NM_000202.8:c.352A>T MANE Select	NP_000193.1:p.Thr118Ser
NM_001166550.4:c.82A>T	NP_001160022.1:p.Thr28Ser
NM_006123.5:c.352A>T	NP_006114.1:p.Thr118Ser
NR_104128.2:n.521A>T