Canonical Allele Identifier: CA519173807

Gene: IDS

Linked Data

• ClinVar Variation Id: 1142671
• ClinVar RCV Id: RCV001480577
• dbSNP Id: rs1569560371
• gnomAD v4: X-149482977-C-T
• MyVariant Identifiers: chrX:g.148564508C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482977C>T , CM000685.2:g.149482977C>T	GRCh38
NC_000023.10:g.148564508C>T , CM000685.1:g.148564508C>T	GRCh37
NC_000023.9:g.148372413C>T	NCBI36
NG_011900.3:g.27358G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1422G>A MANE Select	ENSP00000339801.6:p.Gln474=
ENST00000651111.1:c.789G>A	ENSP00000498395.1:p.Gln263=
ENST00000340855.10:c.1422G>A	ENSP00000339801.6:p.Gln474=
ENST00000422081.6:c.789G>A	ENSP00000477056.1:p.Gln263=
NM_000202.6:c.1422G>A	NP_000193.1:p.Gln474=
NM_001166550.2:c.1152G>A	NP_001160022.1:p.Gln384=
NM_000202.7:c.1422G>A	NP_000193.1:p.Gln474=
NM_001166550.3:c.1152G>A	NP_001160022.1:p.Gln384=
NM_000202.8:c.1422G>A MANE Select	NP_000193.1:p.Gln474=
NM_001166550.4:c.1152G>A	NP_001160022.1:p.Gln384=