Canonical Allele Identifier: CA414518200

Gene: IDS

Linked Data

• ClinVar Variation Id: 1771447
• ClinVar RCV Id: RCV002396581 ; RCV003479424 ; RCV003774299
• dbSNP Id: rs1233392388
• gnomAD v3: X-149483011-T-C
• gnomAD v4: X-149483011-T-C
• MyVariant Identifiers: chrX:g.148564542T>C (hg19) ; chrX:g.149483011T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483011T>C , CM000685.2:g.149483011T>C	GRCh38
NC_000023.10:g.148564542T>C , CM000685.1:g.148564542T>C	GRCh37
NC_000023.9:g.148372447T>C	NCBI36
NG_011900.3:g.27324A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.1388A>G MANE Select	ENSP00000339801.6:p.Tyr463Cys
ENST00000651111.1:c.755A>G	ENSP00000498395.1:p.Tyr252Cys
ENST00000340855.10:c.1388A>G	ENSP00000339801.6:p.Tyr463Cys
ENST00000422081.6:c.755A>G	ENSP00000477056.1:p.Tyr252Cys
NM_000202.6:c.1388A>G	NP_000193.1:p.Tyr463Cys
NM_001166550.2:c.1118A>G	NP_001160022.1:p.Tyr373Cys
NM_000202.7:c.1388A>G	NP_000193.1:p.Tyr463Cys
NM_001166550.3:c.1118A>G	NP_001160022.1:p.Tyr373Cys
NM_000202.8:c.1388A>G MANE Select	NP_000193.1:p.Tyr463Cys
NM_001166550.4:c.1118A>G	NP_001160022.1:p.Tyr373Cys