Canonical Allele Identifier: CA10537653

Gene: IDS

Linked Data

• ClinVar Variation Id: 1154629
• ClinVar RCV Id: RCV001496682
• dbSNP Id: rs782649306
• ExAC: X:148582510 A / G
• gnomAD v2: X-148582510-A-G
• gnomAD v3: X-149500979-A-G
• gnomAD v4: X-149500979-A-G
• MyVariant Identifiers: chrX:g.148582510A>G (hg19) ; chrX:g.149500979A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149500979A>G , CM000685.2:g.149500979A>G	GRCh38
NC_000023.10:g.148582510A>G , CM000685.1:g.148582510A>G	GRCh37
NC_000023.9:g.148390415A>G	NCBI36
NG_011900.3:g.9356T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.477T>C MANE Select	ENSP00000339801.6:p.His159=
ENST00000651111.1:c.-157T>C	ENSP00000498395.1:n.-157T>C
ENST00000340855.10:c.477T>C	ENSP00000339801.6:p.His159=
ENST00000370441.8:c.477T>C	ENSP00000359470.4:p.His159=
ENST00000422081.6:c.-157T>C	ENSP00000477056.1:n.-157T>C
ENST00000441880.1:n.114-13881T>C
ENST00000464251.5:c.403T>C	ENSP00000428980.1:n.403T>C
ENST00000466323.5:c.477T>C	ENSP00000418264.1:p.His159=
ENST00000490775.5:n.136T>C
ENST00000523759.5:n.591T>C
NM_000202.6:c.477T>C	NP_000193.1:p.His159=
NM_001166550.2:c.207T>C	NP_001160022.1:p.His69=
NM_006123.4:c.477T>C	NP_006114.1:p.His159=
NR_104128.1:n.694T>C
NM_000202.7:c.477T>C	NP_000193.1:p.His159=
NM_001166550.3:c.207T>C	NP_001160022.1:p.His69=
NM_000202.8:c.477T>C MANE Select	NP_000193.1:p.His159=
NM_001166550.4:c.207T>C	NP_001160022.1:p.His69=
NM_006123.5:c.477T>C	NP_006114.1:p.His159=
NR_104128.2:n.646T>C