Canonical Allele Identifier: CA414517959

Gene: IDS

Linked Data

• ClinVar Variation Id: 2845955
• ClinVar RCV Id: RCV003623144
• MyVariant Identifiers: chrX:g.148564432T>C (hg19) ; chrX:g.149482901T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482901T>C , CM000685.2:g.149482901T>C	GRCh38
NC_000023.10:g.148564432T>C , CM000685.1:g.148564432T>C	GRCh37
NC_000023.9:g.148372337T>C	NCBI36
NG_011900.3:g.27434A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1498A>G MANE Select	ENSP00000339801.6:p.Thr500Ala
ENST00000651111.1:c.865A>G	ENSP00000498395.1:p.Thr289Ala
ENST00000340855.10:c.1498A>G	ENSP00000339801.6:p.Thr500Ala
ENST00000422081.6:c.865A>G	ENSP00000477056.1:p.Thr289Ala
NM_000202.6:c.1498A>G	NP_000193.1:p.Thr500Ala
NM_001166550.2:c.1228A>G	NP_001160022.1:p.Thr410Ala
NM_000202.7:c.1498A>G	NP_000193.1:p.Thr500Ala
NM_001166550.3:c.1228A>G	NP_001160022.1:p.Thr410Ala
NM_000202.8:c.1498A>G MANE Select	NP_000193.1:p.Thr500Ala
NM_001166550.4:c.1228A>G	NP_001160022.1:p.Thr410Ala