Canonical Allele Identifier: CA414520463

Gene: IDS

Linked Data

• gnomAD v4: X-149490424-C-T
• MyVariant Identifiers: chrX:g.148571955C>T (hg19) ; chrX:g.149490424C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490424C>T , CM000685.2:g.149490424C>T	GRCh38
NC_000023.10:g.148571955C>T , CM000685.1:g.148571955C>T	GRCh37
NC_000023.9:g.148379860C>T	NCBI36
NG_011900.3:g.19911G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.896G>A MANE Select	ENSP00000339801.6:p.Ser299Asn
ENST00000651111.1:c.263G>A	ENSP00000498395.1:p.Ser88Asn
ENST00000340855.10:c.896G>A	ENSP00000339801.6:p.Ser299Asn
ENST00000370441.8:c.896G>A	ENSP00000359470.4:p.Ser299Asn
ENST00000422081.6:c.263G>A	ENSP00000477056.1:p.Ser88Asn
ENST00000441880.1:n.114-3326G>A
ENST00000464251.5:c.822G>A	ENSP00000428980.1:n.822G>A
ENST00000466323.5:c.*87G>A	ENSP00000418264.1:n.*87G>A
ENST00000490775.5:n.681G>A
NM_000202.6:c.896G>A	NP_000193.1:p.Ser299Asn
NM_001166550.2:c.626G>A	NP_001160022.1:p.Ser209Asn
NM_006123.4:c.896G>A	NP_006114.1:p.Ser299Asn
NR_104128.1:n.1243G>A
NM_000202.7:c.896G>A	NP_000193.1:p.Ser299Asn
NM_001166550.3:c.626G>A	NP_001160022.1:p.Ser209Asn
NM_000202.8:c.896G>A MANE Select	NP_000193.1:p.Ser299Asn
NM_001166550.4:c.626G>A	NP_001160022.1:p.Ser209Asn
NM_006123.5:c.896G>A	NP_006114.1:p.Ser299Asn
NR_104128.2:n.1195G>A