Canonical Allele Identifier: CA645071083

Gene: IDS

Linked Data

• dbSNP Id: rs1557338185
• gnomAD v2: X-148568747-C-A
• gnomAD v3: X-149487216-C-A
• gnomAD v4: X-149487216-C-A
• MyVariant Identifiers: chrX:g.148568747C>A (hg19) ; chrX:g.149487216C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149487216C>A , CM000685.2:g.149487216C>A	GRCh38
NC_000023.10:g.148568747C>A , CM000685.1:g.148568747C>A	GRCh37
NC_000023.9:g.148376652C>A	NCBI36
NG_011900.3:g.23119G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1007-118G>T MANE Select	ENSP00000339801.6:n.1007-118G>T
ENST00000651111.1:c.374-118G>T	ENSP00000498395.1:n.374-118G>T
ENST00000340855.10:c.1007-118G>T	ENSP00000339801.6:n.1007-118G>T
ENST00000370441.8:c.*72G>T	ENSP00000359470.4:n.*72G>T
ENST00000422081.6:c.374-118G>T	ENSP00000477056.1:n.374-118G>T
ENST00000441880.1:n.114-118G>T
ENST00000466323.5:c.*295G>T	ENSP00000418264.1:n.*295G>T
ENST00000490775.5:n.889G>T
NM_000202.6:c.1007-118G>T	NP_000193.1:n.1007-118G>T
NM_001166550.2:c.737-118G>T	NP_001160022.1:n.737-118G>T
NM_006123.4:c.*72G>T	NP_006114.1:n.*72G>T
NR_104128.1:n.1451G>T
NM_000202.7:c.1007-118G>T	NP_000193.1:n.1007-118G>T
NM_001166550.3:c.737-118G>T	NP_001160022.1:n.737-118G>T
NM_000202.8:c.1007-118G>T MANE Select	NP_000193.1:n.1007-118G>T
NM_001166550.4:c.737-118G>T	NP_001160022.1:n.737-118G>T
NM_006123.5:c.*72G>T	NP_006114.1:n.*72G>T
NR_104128.2:n.1403G>T