Canonical Allele Identifier: CA10537538

Gene: IDS

Linked Data

• ClinVar Variation Id: 3000159
• ClinVar RCV Id: RCV003857334
• dbSNP Id: rs202218431
• ExAC: X:148571877 T / C
• gnomAD v2: X-148571877-T-C
• gnomAD v3: X-149490346-T-C
• gnomAD v4: X-149490346-T-C
• MyVariant Identifiers: chrX:g.148571877T>C (hg19) ; chrX:g.149490346T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490346T>C , CM000685.2:g.149490346T>C	GRCh38
NC_000023.10:g.148571877T>C , CM000685.1:g.148571877T>C	GRCh37
NC_000023.9:g.148379782T>C	NCBI36
NG_011900.3:g.19989A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.974A>G MANE Select	ENSP00000339801.6:p.Asn325Ser
ENST00000651111.1:c.341A>G	ENSP00000498395.1:p.Asn114Ser
ENST00000340855.10:c.974A>G	ENSP00000339801.6:p.Asn325Ser
ENST00000370441.8:c.974A>G	ENSP00000359470.4:p.Asn325Ser
ENST00000422081.6:c.341A>G	ENSP00000477056.1:p.Asn114Ser
ENST00000441880.1:n.114-3248A>G
ENST00000464251.5:c.900A>G	ENSP00000428980.1:n.900A>G
ENST00000466323.5:c.*165A>G	ENSP00000418264.1:n.*165A>G
ENST00000490775.5:n.759A>G
NM_000202.6:c.974A>G	NP_000193.1:p.Asn325Ser
NM_001166550.2:c.704A>G	NP_001160022.1:p.Asn235Ser
NM_006123.4:c.974A>G	NP_006114.1:p.Asn325Ser
NR_104128.1:n.1321A>G
NM_000202.7:c.974A>G	NP_000193.1:p.Asn325Ser
NM_001166550.3:c.704A>G	NP_001160022.1:p.Asn235Ser
NM_000202.8:c.974A>G MANE Select	NP_000193.1:p.Asn325Ser
NM_001166550.4:c.704A>G	NP_001160022.1:p.Asn235Ser
NM_006123.5:c.974A>G	NP_006114.1:p.Asn325Ser
NR_104128.2:n.1273A>G