Canonical Allele Identifier: CA414521929

Gene: IDS

Linked Data

• ClinVar Variation Id: 2440826
• ClinVar RCV Id: RCV003146127
• MyVariant Identifiers: chrX:g.148577962T>A (hg19) ; chrX:g.149496431T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149496431T>A , CM000685.2:g.149496431T>A	GRCh38
NC_000023.10:g.148577962T>A , CM000685.1:g.148577962T>A	GRCh37
NC_000023.9:g.148385867T>A	NCBI36
NG_011900.3:g.13904A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.794A>T MANE Select	ENSP00000339801.6:p.Asn265Ile
ENST00000651111.1:c.161A>T	ENSP00000498395.1:p.Asn54Ile
ENST00000340855.10:c.794A>T	ENSP00000339801.6:p.Asn265Ile
ENST00000370441.8:c.794A>T	ENSP00000359470.4:p.Asn265Ile
ENST00000422081.6:c.161A>T	ENSP00000477056.1:p.Asn54Ile
ENST00000441880.1:n.114-9333A>T
ENST00000464251.5:c.720A>T	ENSP00000428980.1:n.720A>T
ENST00000466019.1:n.246A>T
ENST00000466323.5:c.794A>T	ENSP00000418264.1:p.Asn265Ile
ENST00000490775.5:n.579A>T
NM_000202.6:c.794A>T	NP_000193.1:p.Asn265Ile
NM_001166550.2:c.524A>T	NP_001160022.1:p.Asn175Ile
NM_006123.4:c.794A>T	NP_006114.1:p.Asn265Ile
NR_104128.1:n.1011A>T
NM_000202.7:c.794A>T	NP_000193.1:p.Asn265Ile
NM_001166550.3:c.524A>T	NP_001160022.1:p.Asn175Ile
NM_000202.8:c.794A>T MANE Select	NP_000193.1:p.Asn265Ile
NM_001166550.4:c.524A>T	NP_001160022.1:p.Asn175Ile
NM_006123.5:c.794A>T	NP_006114.1:p.Asn265Ile
NR_104128.2:n.963A>T