Canonical Allele Identifier: CA340987

Gene: IDS

Linked Data

• ClinVar Variation Id: 10487
• ClinVar RCV Id: RCV000011233 ; RCV000790725
• dbSNP Id: rs104894853
• MyVariant Identifiers: chrX:g.148571853G>A (hg19) ; chrX:g.149490322G>A (hg38)
• PubMed: PMID:1639384

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490322G>A , CM000685.2:g.149490322G>A	GRCh38
NC_000023.10:g.148571853G>A , CM000685.1:g.148571853G>A	GRCh37
NC_000023.9:g.148379758G>A	NCBI36
NG_011900.3:g.20013C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.998C>T MANE Select	ENSP00000339801.6:p.Ser333Leu
ENST00000651111.1:c.365C>T	ENSP00000498395.1:p.Ser122Leu
ENST00000340855.10:c.998C>T	ENSP00000339801.6:p.Ser333Leu
ENST00000370441.8:c.998C>T	ENSP00000359470.4:p.Ser333Leu
ENST00000422081.6:c.365C>T	ENSP00000477056.1:p.Ser122Leu
ENST00000441880.1:n.114-3224C>T
ENST00000464251.5:c.924C>T	ENSP00000428980.1:n.924C>T
ENST00000466323.5:c.*189C>T	ENSP00000418264.1:n.*189C>T
ENST00000490775.5:n.783C>T
NM_000202.6:c.998C>T	NP_000193.1:p.Ser333Leu
NM_001166550.2:c.728C>T	NP_001160022.1:p.Ser243Leu
NM_006123.4:c.998C>T	NP_006114.1:p.Ser333Leu
NR_104128.1:n.1345C>T
NM_000202.7:c.998C>T	NP_000193.1:p.Ser333Leu
NM_001166550.3:c.728C>T	NP_001160022.1:p.Ser243Leu
NM_000202.8:c.998C>T MANE Select	NP_000193.1:p.Ser333Leu
NM_001166550.4:c.728C>T	NP_001160022.1:p.Ser243Leu
NM_006123.5:c.998C>T	NP_006114.1:p.Ser333Leu
NR_104128.2:n.1297C>T