Canonical Allele Identifier: CA414519805

Gene: IDS

Linked Data

• ClinVar Variation Id: 457353
• ClinVar RCV Id: RCV000548295
• dbSNP Id: rs1557338581
• MyVariant Identifiers: chrX:g.148571845C>A (hg19) ; chrX:g.149490314C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490314C>A , CM000685.2:g.149490314C>A	GRCh38
NC_000023.10:g.148571845C>A , CM000685.1:g.148571845C>A	GRCh37
NC_000023.9:g.148379750C>A	NCBI36
NG_011900.3:g.20021G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.1006G>T MANE Select	ENSP00000339801.6:p.Gly336Trp
ENST00000651111.1:c.373G>T	ENSP00000498395.1:p.Gly125Trp
ENST00000340855.10:c.1006G>T	ENSP00000339801.6:p.Gly336Trp
ENST00000370441.8:c.1006G>T	ENSP00000359470.4:p.Gly336Cys
ENST00000422081.6:c.373G>T	ENSP00000477056.1:p.Gly125Trp
ENST00000441880.1:n.114-3216G>T
ENST00000464251.5:c.932G>T	ENSP00000428980.1:n.932G>T
ENST00000466323.5:c.*197G>T	ENSP00000418264.1:n.*197G>T
ENST00000490775.5:n.791G>T
NM_000202.6:c.1006G>T	NP_000193.1:p.Gly336Trp
NM_001166550.2:c.736G>T	NP_001160022.1:p.Gly246Trp
NM_006123.4:c.1006G>T	NP_006114.1:p.Gly336Cys
NR_104128.1:n.1353G>T
NM_000202.7:c.1006G>T	NP_000193.1:p.Gly336Trp
NM_001166550.3:c.736G>T	NP_001160022.1:p.Gly246Trp
NM_000202.8:c.1006G>T MANE Select	NP_000193.1:p.Gly336Trp
NM_001166550.4:c.736G>T	NP_001160022.1:p.Gly246Trp
NM_006123.5:c.1006G>T	NP_006114.1:p.Gly336Cys
NR_104128.2:n.1305G>T