Canonical Allele Identifier: CA414527386

Gene: IDS

Linked Data

• ClinVar Variation Id: 2432689
• ClinVar RCV Id: RCV003135716
• MyVariant Identifiers: chrX:g.148585727A>G (hg19) ; chrX:g.149504197A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149504197A>G , CM000685.2:g.149504197A>G	GRCh38
NC_000023.10:g.148585727A>G , CM000685.1:g.148585727A>G	GRCh37
NC_000023.9:g.148393631A>G	NCBI36
NG_011900.3:g.6138T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.200T>C MANE Select	ENSP00000339801.6:p.Leu67Pro
ENST00000651111.1:c.-215-3160T>C	ENSP00000498395.1:n.-215-3160T>C
ENST00000340855.10:c.200T>C	ENSP00000339801.6:p.Leu67Pro
ENST00000370441.8:c.200T>C	ENSP00000359470.4:p.Leu67Pro
ENST00000422081.6:c.-215-3160T>C	ENSP00000477056.1:n.-215-3160T>C
ENST00000427113.2:n.770-1974T>C
ENST00000428056.6:c.200T>C	ENSP00000390241.2:p.Leu67Pro
ENST00000441880.1:n.114-17099T>C
ENST00000464251.5:c.23T>C	ENSP00000428980.1:p.Leu8Pro
ENST00000466323.5:c.200T>C	ENSP00000418264.1:p.Leu67Pro
ENST00000521702.1:c.200T>C	ENSP00000429745.1:p.Leu67Pro
ENST00000523759.5:n.533-3160T>C
NM_000202.6:c.200T>C	NP_000193.1:p.Leu67Pro
NM_001166550.2:c.-27T>C	NP_001160022.1:n.-27T>C
NM_006123.4:c.200T>C	NP_006114.1:p.Leu67Pro
NR_104128.1:n.417T>C
NM_000202.7:c.200T>C	NP_000193.1:p.Leu67Pro
NM_001166550.3:c.-27T>C	NP_001160022.1:n.-27T>C
NM_000202.8:c.200T>C MANE Select	NP_000193.1:p.Leu67Pro
NM_001166550.4:c.-27T>C	NP_001160022.1:n.-27T>C
NM_006123.5:c.200T>C	NP_006114.1:p.Leu67Pro
NR_104128.2:n.369T>C