Canonical Allele Identifier: CA519174276

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148564721A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483190A>C , CM000685.2:g.149483190A>C	GRCh38
NC_000023.10:g.148564721A>C , CM000685.1:g.148564721A>C	GRCh37
NC_000023.9:g.148372626A>C	NCBI36
NG_011900.3:g.27145T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1209T>G MANE Select	ENSP00000339801.6:p.Leu403=
ENST00000651111.1:c.576T>G	ENSP00000498395.1:p.Leu192=
ENST00000340855.10:c.1209T>G	ENSP00000339801.6:p.Leu403=
ENST00000422081.6:c.576T>G	ENSP00000477056.1:p.Leu192=
ENST00000441880.1:n.316T>G
NM_000202.6:c.1209T>G	NP_000193.1:p.Leu403=
NM_001166550.2:c.939T>G	NP_001160022.1:p.Leu313=
NM_000202.7:c.1209T>G	NP_000193.1:p.Leu403=
NM_001166550.3:c.939T>G	NP_001160022.1:p.Leu313=
NM_000202.8:c.1209T>G MANE Select	NP_000193.1:p.Leu403=
NM_001166550.4:c.939T>G	NP_001160022.1:p.Leu313=