Canonical Allele Identifier: CA414522180

Gene: IDS

Linked Data

• ClinVar Variation Id: 996561
• ClinVar RCV Id: RCV001291035
• dbSNP Id: rs113993945
• MyVariant Identifiers: chrX:g.148579663G>A (hg19) ; chrX:g.149498132G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498132G>A , CM000685.2:g.149498132G>A	GRCh38
NC_000023.10:g.148579663G>A , CM000685.1:g.148579663G>A	GRCh37
NC_000023.9:g.148387568G>A	NCBI36
NG_011900.3:g.12203C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.683C>T MANE Select	ENSP00000339801.6:p.Pro228Leu
ENST00000651111.1:c.50C>T	ENSP00000498395.1:p.Pro17Leu
ENST00000340855.10:c.683C>T	ENSP00000339801.6:p.Pro228Leu
ENST00000370441.8:c.683C>T	ENSP00000359470.4:p.Pro228Leu
ENST00000422081.6:c.50C>T	ENSP00000477056.1:p.Pro17Leu
ENST00000441880.1:n.114-11034C>T
ENST00000464251.5:c.609C>T	ENSP00000428980.1:n.609C>T
ENST00000466019.1:n.135C>T
ENST00000466323.5:c.683C>T	ENSP00000418264.1:p.Pro228Leu
ENST00000490775.5:n.468C>T
NM_000202.6:c.683C>T	NP_000193.1:p.Pro228Leu
NM_001166550.2:c.413C>T	NP_001160022.1:p.Pro138Leu
NM_006123.4:c.683C>T	NP_006114.1:p.Pro228Leu
NR_104128.1:n.900C>T
NM_000202.7:c.683C>T	NP_000193.1:p.Pro228Leu
NM_001166550.3:c.413C>T	NP_001160022.1:p.Pro138Leu
NM_000202.8:c.683C>T MANE Select	NP_000193.1:p.Pro228Leu
NM_001166550.4:c.413C>T	NP_001160022.1:p.Pro138Leu
NM_006123.5:c.683C>T	NP_006114.1:p.Pro228Leu
NR_104128.2:n.852C>T