Canonical Allele Identifier: CA519173893

Gene: IDS

Linked Data

• ClinVar Variation Id: 1138143
• ClinVar RCV Id: RCV001474386
• dbSNP Id: rs2123994427
• MyVariant Identifiers: chrX:g.148564535C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483004C>T , CM000685.2:g.149483004C>T	GRCh38
NC_000023.10:g.148564535C>T , CM000685.1:g.148564535C>T	GRCh37
NC_000023.9:g.148372440C>T	NCBI36
NG_011900.3:g.27331G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1395G>A MANE Select	ENSP00000339801.6:p.Gln465=
ENST00000651111.1:c.762G>A	ENSP00000498395.1:p.Gln254=
ENST00000340855.10:c.1395G>A	ENSP00000339801.6:p.Gln465=
ENST00000422081.6:c.762G>A	ENSP00000477056.1:p.Gln254=
NM_000202.6:c.1395G>A	NP_000193.1:p.Gln465=
NM_001166550.2:c.1125G>A	NP_001160022.1:p.Gln375=
NM_000202.7:c.1395G>A	NP_000193.1:p.Gln465=
NM_001166550.3:c.1125G>A	NP_001160022.1:p.Gln375=
NM_000202.8:c.1395G>A MANE Select	NP_000193.1:p.Gln465=
NM_001166550.4:c.1125G>A	NP_001160022.1:p.Gln375=