Canonical Allele Identifier: CA519058439

Gene: IDS

Linked Data

• ClinVar Variation Id: 1662075
• ClinVar RCV Id: RCV002193400
• dbSNP Id: rs2124047235
• MyVariant Identifiers: chrX:g.148579824T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498293T>C , CM000685.2:g.149498293T>C	GRCh38
NC_000023.10:g.148579824T>C , CM000685.1:g.148579824T>C	GRCh37
NC_000023.9:g.148387729T>C	NCBI36
NG_011900.3:g.12042A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.522A>G MANE Select	ENSP00000339801.6:p.Pro174=
ENST00000651111.1:c.-112A>G	ENSP00000498395.1:n.-112A>G
ENST00000340855.10:c.522A>G	ENSP00000339801.6:p.Pro174=
ENST00000370441.8:c.522A>G	ENSP00000359470.4:p.Pro174=
ENST00000422081.6:c.-112A>G	ENSP00000477056.1:n.-112A>G
ENST00000441880.1:n.114-11195A>G
ENST00000464251.5:c.448A>G	ENSP00000428980.1:n.448A>G
ENST00000466323.5:c.522A>G	ENSP00000418264.1:p.Pro174=
ENST00000490775.5:n.307A>G
ENST00000523759.5:n.636A>G
NM_000202.6:c.522A>G	NP_000193.1:p.Pro174=
NM_001166550.2:c.252A>G	NP_001160022.1:p.Pro84=
NM_006123.4:c.522A>G	NP_006114.1:p.Pro174=
NR_104128.1:n.739A>G
NM_000202.7:c.522A>G	NP_000193.1:p.Pro174=
NM_001166550.3:c.252A>G	NP_001160022.1:p.Pro84=
NM_000202.8:c.522A>G MANE Select	NP_000193.1:p.Pro174=
NM_001166550.4:c.252A>G	NP_001160022.1:p.Pro84=
NM_006123.5:c.522A>G	NP_006114.1:p.Pro174=
NR_104128.2:n.691A>G