Canonical Allele Identifier: CA872890591

Gene: IDS

Linked Data

• dbSNP Id: rs894780148
• gnomAD v3: X-149487170-C-A
• gnomAD v4: X-149487170-C-A
• MyVariant Identifiers: chrX:g.149487170C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149487170C>A , CM000685.2:g.149487170C>A	GRCh38
NC_000023.10:g.148568701C>A , CM000685.1:g.148568701C>A	GRCh37
NC_000023.9:g.148376606C>A	NCBI36
NG_011900.3:g.23165G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1007-72G>T MANE Select	ENSP00000339801.6:n.1007-72G>T
ENST00000651111.1:c.374-72G>T	ENSP00000498395.1:n.374-72G>T
ENST00000340855.10:c.1007-72G>T	ENSP00000339801.6:n.1007-72G>T
ENST00000370441.8:c.*118G>T	ENSP00000359470.4:n.*118G>T
ENST00000422081.6:c.374-72G>T	ENSP00000477056.1:n.374-72G>T
ENST00000441880.1:n.114-72G>T
ENST00000466323.5:c.*341G>T	ENSP00000418264.1:n.*341G>T
ENST00000490775.5:n.935G>T
NM_000202.6:c.1007-72G>T	NP_000193.1:n.1007-72G>T
NM_001166550.2:c.737-72G>T	NP_001160022.1:n.737-72G>T
NM_006123.4:c.*118G>T	NP_006114.1:n.*118G>T
NR_104128.1:n.1497G>T
NM_000202.7:c.1007-72G>T	NP_000193.1:n.1007-72G>T
NM_001166550.3:c.737-72G>T	NP_001160022.1:n.737-72G>T
NM_000202.8:c.1007-72G>T MANE Select	NP_000193.1:n.1007-72G>T
NM_001166550.4:c.737-72G>T	NP_001160022.1:n.737-72G>T
NM_006123.5:c.*118G>T	NP_006114.1:n.*118G>T
NR_104128.2:n.1449G>T