Canonical Allele Identifier: CA414520134

Gene: IDS

Linked Data

• dbSNP Id: rs2089379379
• gnomAD v3: X-149490368-A-C
• gnomAD v4: X-149490368-A-C
• MyVariant Identifiers: chrX:g.148571899A>C (hg19) ; chrX:g.149490368A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490368A>C , CM000685.2:g.149490368A>C	GRCh38
NC_000023.10:g.148571899A>C , CM000685.1:g.148571899A>C	GRCh37
NC_000023.9:g.148379804A>C	NCBI36
NG_011900.3:g.19967T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.952T>G MANE Select	ENSP00000339801.6:p.Leu318Val
ENST00000651111.1:c.319T>G	ENSP00000498395.1:p.Leu107Val
ENST00000340855.10:c.952T>G	ENSP00000339801.6:p.Leu318Val
ENST00000370441.8:c.952T>G	ENSP00000359470.4:p.Leu318Val
ENST00000422081.6:c.319T>G	ENSP00000477056.1:p.Leu107Val
ENST00000441880.1:n.114-3270T>G
ENST00000464251.5:c.878T>G	ENSP00000428980.1:n.878T>G
ENST00000466323.5:c.*143T>G	ENSP00000418264.1:n.*143T>G
ENST00000490775.5:n.737T>G
NM_000202.6:c.952T>G	NP_000193.1:p.Leu318Val
NM_001166550.2:c.682T>G	NP_001160022.1:p.Leu228Val
NM_006123.4:c.952T>G	NP_006114.1:p.Leu318Val
NR_104128.1:n.1299T>G
NM_000202.7:c.952T>G	NP_000193.1:p.Leu318Val
NM_001166550.3:c.682T>G	NP_001160022.1:p.Leu228Val
NM_000202.8:c.952T>G MANE Select	NP_000193.1:p.Leu318Val
NM_001166550.4:c.682T>G	NP_001160022.1:p.Leu228Val
NM_006123.5:c.952T>G	NP_006114.1:p.Leu318Val
NR_104128.2:n.1251T>G