Canonical Allele Identifier: CA10537637

Gene: IDS

Linked Data

• ClinVar Variation Id: 1915241
• ClinVar RCV Id: RCV002601334 ; RCV003226549
• dbSNP Id: rs139495864
• ExAC: X:148579771 G / C
• gnomAD v2: X-148579771-G-C
• gnomAD v3: X-149498240-G-C
• gnomAD v4: X-149498240-G-C
• MyVariant Identifiers: chrX:g.148579771G>C (hg19) ; chrX:g.149498240G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498240G>C , CM000685.2:g.149498240G>C	GRCh38
NC_000023.10:g.148579771G>C , CM000685.1:g.148579771G>C	GRCh37
NC_000023.9:g.148387676G>C	NCBI36
NG_011900.3:g.12095C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.575C>G MANE Select	ENSP00000339801.6:p.Pro192Arg
ENST00000651111.1:c.-59C>G	ENSP00000498395.1:n.-59C>G
ENST00000340855.10:c.575C>G	ENSP00000339801.6:p.Pro192Arg
ENST00000370441.8:c.575C>G	ENSP00000359470.4:p.Pro192Arg
ENST00000422081.6:c.-59C>G	ENSP00000477056.1:n.-59C>G
ENST00000441880.1:n.114-11142C>G
ENST00000464251.5:c.501C>G	ENSP00000428980.1:n.501C>G
ENST00000466019.1:n.27C>G
ENST00000466323.5:c.575C>G	ENSP00000418264.1:p.Pro192Arg
ENST00000490775.5:n.360C>G
ENST00000523759.5:n.689C>G
NM_000202.6:c.575C>G	NP_000193.1:p.Pro192Arg
NM_001166550.2:c.305C>G	NP_001160022.1:p.Pro102Arg
NM_006123.4:c.575C>G	NP_006114.1:p.Pro192Arg
NR_104128.1:n.792C>G
NM_000202.7:c.575C>G	NP_000193.1:p.Pro192Arg
NM_001166550.3:c.305C>G	NP_001160022.1:p.Pro102Arg
NM_000202.8:c.575C>G MANE Select	NP_000193.1:p.Pro192Arg
NM_001166550.4:c.305C>G	NP_001160022.1:p.Pro102Arg
NM_006123.5:c.575C>G	NP_006114.1:p.Pro192Arg
NR_104128.2:n.744C>G