Canonical Allele Identifier: CA414525647

Gene: IDS

Linked Data

• ClinVar Variation Id: 2506150
• ClinVar RCV Id: RCV003236381
• MyVariant Identifiers: chrX:g.148584860C>T (hg19) ; chrX:g.149503330C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503330C>T , CM000685.2:g.149503330C>T	GRCh38
NC_000023.10:g.148584860C>T , CM000685.1:g.148584860C>T	GRCh37
NC_000023.9:g.148392765C>T	NCBI36
NG_011900.3:g.7005G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.400G>A MANE Select	ENSP00000339801.6:p.Gly134Arg
ENST00000651111.1:c.-215-2293G>A	ENSP00000498395.1:n.-215-2293G>A
ENST00000340855.10:c.400G>A	ENSP00000339801.6:p.Gly134Arg
ENST00000370441.8:c.400G>A	ENSP00000359470.4:p.Gly134Arg
ENST00000422081.6:c.-215-2293G>A	ENSP00000477056.1:n.-215-2293G>A
ENST00000427113.2:n.770-1107G>A
ENST00000428056.6:c.400G>A	ENSP00000390241.2:p.Gly134Arg
ENST00000441880.1:n.114-16232G>A
ENST00000464251.5:c.223G>A	ENSP00000428980.1:p.Gly75Arg
ENST00000466323.5:c.400G>A	ENSP00000418264.1:p.Gly134Arg
ENST00000490775.5:n.59G>A
ENST00000523759.5:n.533-2293G>A
NM_000202.6:c.400G>A	NP_000193.1:p.Gly134Arg
NM_001166550.2:c.130G>A	NP_001160022.1:p.Gly44Arg
NM_006123.4:c.400G>A	NP_006114.1:p.Gly134Arg
NR_104128.1:n.617G>A
NM_000202.7:c.400G>A	NP_000193.1:p.Gly134Arg
NM_001166550.3:c.130G>A	NP_001160022.1:p.Gly44Arg
NM_000202.8:c.400G>A MANE Select	NP_000193.1:p.Gly134Arg
NM_001166550.4:c.130G>A	NP_001160022.1:p.Gly44Arg
NM_006123.5:c.400G>A	NP_006114.1:p.Gly134Arg
NR_104128.2:n.569G>A