Canonical Allele Identifier: CA872890567

Gene: IDS

Linked Data

• dbSNP Id: rs1334844659
• gnomAD v3: X-149486704-C-T
• gnomAD v4: X-149486704-C-T
• MyVariant Identifiers: chrX:g.149486704C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149486704C>T , CM000685.2:g.149486704C>T	GRCh38
NC_000023.10:g.148568235C>T , CM000685.1:g.148568235C>T	GRCh37
NC_000023.9:g.148376140C>T	NCBI36
NG_011900.3:g.23631G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1180+221G>A MANE Select	ENSP00000339801.6:n.1180+221G>A
ENST00000651111.1:c.547+221G>A	ENSP00000498395.1:n.547+221G>A
ENST00000340855.10:c.1180+221G>A	ENSP00000339801.6:n.1180+221G>A
ENST00000422081.6:c.547+221G>A	ENSP00000477056.1:n.547+221G>A
ENST00000441880.1:n.287+221G>A
NM_000202.6:c.1180+221G>A	NP_000193.1:n.1180+221G>A
NM_001166550.2:c.910+221G>A	NP_001160022.1:n.910+221G>A
NM_000202.7:c.1180+221G>A	NP_000193.1:n.1180+221G>A
NM_001166550.3:c.910+221G>A	NP_001160022.1:n.910+221G>A
NM_000202.8:c.1180+221G>A MANE Select	NP_000193.1:n.1180+221G>A
NM_001166550.4:c.910+221G>A	NP_001160022.1:n.910+221G>A