Canonical Allele Identifier: CA10537626

Gene: IDS

Linked Data

• ClinVar Variation Id: 775044
• ClinVar RCV Id: RCV000955138
• dbSNP Id: rs782498858
• ExAC: X:148579650 G / A
• gnomAD v2: X-148579650-G-A
• gnomAD v3: X-149498119-G-A
• gnomAD v4: X-149498119-G-A
• MyVariant Identifiers: chrX:g.148579650G>A (hg19) ; chrX:g.149498119G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498119G>A , CM000685.2:g.149498119G>A	GRCh38
NC_000023.10:g.148579650G>A , CM000685.1:g.148579650G>A	GRCh37
NC_000023.9:g.148387555G>A	NCBI36
NG_011900.3:g.12216C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.696C>T MANE Select	ENSP00000339801.6:p.Phe232=
ENST00000651111.1:c.63C>T	ENSP00000498395.1:p.Phe21=
ENST00000340855.10:c.696C>T	ENSP00000339801.6:p.Phe232=
ENST00000370441.8:c.696C>T	ENSP00000359470.4:p.Phe232=
ENST00000422081.6:c.63C>T	ENSP00000477056.1:p.Phe21=
ENST00000441880.1:n.114-11021C>T
ENST00000464251.5:c.622C>T	ENSP00000428980.1:n.622C>T
ENST00000466019.1:n.148C>T
ENST00000466323.5:c.696C>T	ENSP00000418264.1:p.Phe232=
ENST00000490775.5:n.481C>T
NM_000202.6:c.696C>T	NP_000193.1:p.Phe232=
NM_001166550.2:c.426C>T	NP_001160022.1:p.Phe142=
NM_006123.4:c.696C>T	NP_006114.1:p.Phe232=
NR_104128.1:n.913C>T
NM_000202.7:c.696C>T	NP_000193.1:p.Phe232=
NM_001166550.3:c.426C>T	NP_001160022.1:p.Phe142=
NM_000202.8:c.696C>T MANE Select	NP_000193.1:p.Phe232=
NM_001166550.4:c.426C>T	NP_001160022.1:p.Phe142=
NM_006123.5:c.696C>T	NP_006114.1:p.Phe232=
NR_104128.2:n.865C>T