Canonical Allele Identifier: CA519174328

Gene: IDS

Linked Data

• ClinVar Variation Id: 2052464
• ClinVar RCV Id: RCV002918827
• MyVariant Identifiers: chrX:g.148564739G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483208G>A , CM000685.2:g.149483208G>A	GRCh38
NC_000023.10:g.148564739G>A , CM000685.1:g.148564739G>A	GRCh37
NC_000023.9:g.148372644G>A	NCBI36
NG_011900.3:g.27127C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1191C>T MANE Select	ENSP00000339801.6:p.Ser397=
ENST00000651111.1:c.558C>T	ENSP00000498395.1:p.Ser186=
ENST00000340855.10:c.1191C>T	ENSP00000339801.6:p.Ser397=
ENST00000422081.6:c.558C>T	ENSP00000477056.1:p.Ser186=
ENST00000441880.1:n.298C>T
NM_000202.6:c.1191C>T	NP_000193.1:p.Ser397=
NM_001166550.2:c.921C>T	NP_001160022.1:p.Ser307=
NM_000202.7:c.1191C>T	NP_000193.1:p.Ser397=
NM_001166550.3:c.921C>T	NP_001160022.1:p.Ser307=
NM_000202.8:c.1191C>T MANE Select	NP_000193.1:p.Ser397=
NM_001166550.4:c.921C>T	NP_001160022.1:p.Ser307=