Canonical Allele Identifier: CA519060842

Gene: IDS

Linked Data

• ClinVar Variation Id: 797076
• ClinVar RCV Id: RCV001495405
• dbSNP Id: rs1602748259
• gnomAD v4: X-149503316-G-A
• MyVariant Identifiers: chrX:g.148584846G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503316G>A , CM000685.2:g.149503316G>A	GRCh38
NC_000023.10:g.148584846G>A , CM000685.1:g.148584846G>A	GRCh37
NC_000023.9:g.148392751G>A	NCBI36
NG_011900.3:g.7019C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.414C>T MANE Select	ENSP00000339801.6:p.His138=
ENST00000651111.1:c.-215-2279C>T	ENSP00000498395.1:n.-215-2279C>T
ENST00000340855.10:c.414C>T	ENSP00000339801.6:p.His138=
ENST00000370441.8:c.414C>T	ENSP00000359470.4:p.His138=
ENST00000422081.6:c.-215-2279C>T	ENSP00000477056.1:n.-215-2279C>T
ENST00000427113.2:n.770-1093C>T
ENST00000428056.6:c.414C>T	ENSP00000390241.2:p.His138=
ENST00000441880.1:n.114-16218C>T
ENST00000464251.5:c.237C>T	ENSP00000428980.1:p.His79=
ENST00000466323.5:c.414C>T	ENSP00000418264.1:p.His138=
ENST00000490775.5:n.73C>T
ENST00000523759.5:n.533-2279C>T
NM_000202.6:c.414C>T	NP_000193.1:p.His138=
NM_001166550.2:c.144C>T	NP_001160022.1:p.His48=
NM_006123.4:c.414C>T	NP_006114.1:p.His138=
NR_104128.1:n.631C>T
NM_000202.7:c.414C>T	NP_000193.1:p.His138=
NM_001166550.3:c.144C>T	NP_001160022.1:p.His48=
NM_000202.8:c.414C>T MANE Select	NP_000193.1:p.His138=
NM_001166550.4:c.144C>T	NP_001160022.1:p.His48=
NM_006123.5:c.414C>T	NP_006114.1:p.His138=
NR_104128.2:n.583C>T