Canonical Allele Identifier: CA348012

Gene: IDS

Linked Data

• ClinVar Variation Id: 221212
• ClinVar RCV Id: RCV000203709
• dbSNP Id: rs113993953
• MyVariant Identifiers: chrX:g.148571967T>A (hg19) ; chrX:g.149490436T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490436T>A , CM000685.2:g.149490436T>A	GRCh38
NC_000023.10:g.148571967T>A , CM000685.1:g.148571967T>A	GRCh37
NC_000023.9:g.148379872T>A	NCBI36
NG_011900.3:g.19899A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.884A>T MANE Select	ENSP00000339801.6:p.Lys295Ile
ENST00000651111.1:c.251A>T	ENSP00000498395.1:p.Lys84Ile
ENST00000340855.10:c.884A>T	ENSP00000339801.6:p.Lys295Ile
ENST00000370441.8:c.884A>T	ENSP00000359470.4:p.Lys295Ile
ENST00000422081.6:c.251A>T	ENSP00000477056.1:p.Lys84Ile
ENST00000441880.1:n.114-3338A>T
ENST00000464251.5:c.810A>T	ENSP00000428980.1:n.810A>T
ENST00000466323.5:c.*75A>T	ENSP00000418264.1:n.*75A>T
ENST00000490775.5:n.669A>T
NM_000202.6:c.884A>T	NP_000193.1:p.Lys295Ile
NM_001166550.2:c.614A>T	NP_001160022.1:p.Lys205Ile
NM_006123.4:c.884A>T	NP_006114.1:p.Lys295Ile
NR_104128.1:n.1231A>T
NM_000202.7:c.884A>T	NP_000193.1:p.Lys295Ile
NM_001166550.3:c.614A>T	NP_001160022.1:p.Lys205Ile
NM_000202.8:c.884A>T MANE Select	NP_000193.1:p.Lys295Ile
NM_001166550.4:c.614A>T	NP_001160022.1:p.Lys205Ile
NM_006123.5:c.884A>T	NP_006114.1:p.Lys295Ile
NR_104128.2:n.1183A>T