Canonical Allele Identifier: CA414527390

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148585728G>C (hg19) ; chrX:g.149504198G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149504198G>C , CM000685.2:g.149504198G>C	GRCh38
NC_000023.10:g.148585728G>C , CM000685.1:g.148585728G>C	GRCh37
NC_000023.9:g.148393632G>C	NCBI36
NG_011900.3:g.6137C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.199C>G MANE Select	ENSP00000339801.6:p.Leu67Val
ENST00000651111.1:c.-215-3161C>G	ENSP00000498395.1:n.-215-3161C>G
ENST00000340855.10:c.199C>G	ENSP00000339801.6:p.Leu67Val
ENST00000370441.8:c.199C>G	ENSP00000359470.4:p.Leu67Val
ENST00000422081.6:c.-215-3161C>G	ENSP00000477056.1:n.-215-3161C>G
ENST00000427113.2:n.770-1975C>G
ENST00000428056.6:c.199C>G	ENSP00000390241.2:p.Leu67Val
ENST00000441880.1:n.114-17100C>G
ENST00000464251.5:c.22C>G	ENSP00000428980.1:p.Leu8Val
ENST00000466323.5:c.199C>G	ENSP00000418264.1:p.Leu67Val
ENST00000521702.1:c.199C>G	ENSP00000429745.1:p.Leu67Val
ENST00000523759.5:n.533-3161C>G
NM_000202.6:c.199C>G	NP_000193.1:p.Leu67Val
NM_001166550.2:c.-28C>G	NP_001160022.1:n.-28C>G
NM_006123.4:c.199C>G	NP_006114.1:p.Leu67Val
NR_104128.1:n.416C>G
NM_000202.7:c.199C>G	NP_000193.1:p.Leu67Val
NM_001166550.3:c.-28C>G	NP_001160022.1:n.-28C>G
NM_000202.8:c.199C>G MANE Select	NP_000193.1:p.Leu67Val
NM_001166550.4:c.-28C>G	NP_001160022.1:n.-28C>G
NM_006123.5:c.199C>G	NP_006114.1:p.Leu67Val
NR_104128.2:n.368C>G