Canonical Allele Identifier: CA872891469

Gene: IDS

Linked Data

• dbSNP Id: rs1448670292
• gnomAD v3: X-149500895-T-C
• gnomAD v4: X-149500895-T-C
• MyVariant Identifiers: chrX:g.149500895T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149500895T>C , CM000685.2:g.149500895T>C	GRCh38
NC_000023.10:g.148582426T>C , CM000685.1:g.148582426T>C	GRCh37
NC_000023.9:g.148390331T>C	NCBI36
NG_011900.3:g.9440A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.507+54A>G MANE Select	ENSP00000339801.6:n.507+54A>G
ENST00000651111.1:c.-127+54A>G	ENSP00000498395.1:n.-127+54A>G
ENST00000340855.10:c.507+54A>G	ENSP00000339801.6:n.507+54A>G
ENST00000370441.8:c.507+54A>G	ENSP00000359470.4:n.507+54A>G
ENST00000422081.6:c.-127+54A>G	ENSP00000477056.1:n.-127+54A>G
ENST00000441880.1:n.114-13797A>G
ENST00000464251.5:c.433+54A>G	ENSP00000428980.1:n.433+54A>G
ENST00000466323.5:c.507+54A>G	ENSP00000418264.1:n.507+54A>G
ENST00000490775.5:n.166+54A>G
ENST00000523759.5:n.621+54A>G
NM_000202.6:c.507+54A>G	NP_000193.1:n.507+54A>G
NM_001166550.2:c.237+54A>G	NP_001160022.1:n.237+54A>G
NM_006123.4:c.507+54A>G	NP_006114.1:n.507+54A>G
NR_104128.1:n.724+54A>G
NM_000202.7:c.507+54A>G	NP_000193.1:n.507+54A>G
NM_001166550.3:c.237+54A>G	NP_001160022.1:n.237+54A>G
NM_000202.8:c.507+54A>G MANE Select	NP_000193.1:n.507+54A>G
NM_001166550.4:c.237+54A>G	NP_001160022.1:n.237+54A>G
NM_006123.5:c.507+54A>G	NP_006114.1:n.507+54A>G
NR_104128.2:n.676+54A>G