Canonical Allele Identifier: CA414525751

Gene: IDS

Linked Data

• ClinVar Variation Id: 2807843
• ClinVar RCV Id: RCV003622535
• MyVariant Identifiers: chrX:g.148584872T>C (hg19) ; chrX:g.149503342T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503342T>C , CM000685.2:g.149503342T>C	GRCh38
NC_000023.10:g.148584872T>C , CM000685.1:g.148584872T>C	GRCh37
NC_000023.9:g.148392777T>C	NCBI36
NG_011900.3:g.6993A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.388A>G MANE Select	ENSP00000339801.6:p.Thr130Ala
ENST00000651111.1:c.-215-2305A>G	ENSP00000498395.1:n.-215-2305A>G
ENST00000340855.10:c.388A>G	ENSP00000339801.6:p.Thr130Ala
ENST00000370441.8:c.388A>G	ENSP00000359470.4:p.Thr130Ala
ENST00000422081.6:c.-215-2305A>G	ENSP00000477056.1:n.-215-2305A>G
ENST00000427113.2:n.770-1119A>G
ENST00000428056.6:c.388A>G	ENSP00000390241.2:p.Thr130Ala
ENST00000441880.1:n.114-16244A>G
ENST00000464251.5:c.211A>G	ENSP00000428980.1:p.Thr71Ala
ENST00000466323.5:c.388A>G	ENSP00000418264.1:p.Thr130Ala
ENST00000490775.5:n.47A>G
ENST00000523759.5:n.533-2305A>G
NM_000202.6:c.388A>G	NP_000193.1:p.Thr130Ala
NM_001166550.2:c.118A>G	NP_001160022.1:p.Thr40Ala
NM_006123.4:c.388A>G	NP_006114.1:p.Thr130Ala
NR_104128.1:n.605A>G
NM_000202.7:c.388A>G	NP_000193.1:p.Thr130Ala
NM_001166550.3:c.118A>G	NP_001160022.1:p.Thr40Ala
NM_000202.8:c.388A>G MANE Select	NP_000193.1:p.Thr130Ala
NM_001166550.4:c.118A>G	NP_001160022.1:p.Thr40Ala
NM_006123.5:c.388A>G	NP_006114.1:p.Thr130Ala
NR_104128.2:n.557A>G