Canonical Allele Identifier: CA414518189

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148564538G>C (hg19) ; chrX:g.149483007G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483007G>C , CM000685.2:g.149483007G>C	GRCh38
NC_000023.10:g.148564538G>C , CM000685.1:g.148564538G>C	GRCh37
NC_000023.9:g.148372443G>C	NCBI36
NG_011900.3:g.27328C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1392C>G MANE Select	ENSP00000339801.6:p.Ser464Arg
ENST00000651111.1:c.759C>G	ENSP00000498395.1:p.Ser253Arg
ENST00000340855.10:c.1392C>G	ENSP00000339801.6:p.Ser464Arg
ENST00000422081.6:c.759C>G	ENSP00000477056.1:p.Ser253Arg
NM_000202.6:c.1392C>G	NP_000193.1:p.Ser464Arg
NM_001166550.2:c.1122C>G	NP_001160022.1:p.Ser374Arg
NM_000202.7:c.1392C>G	NP_000193.1:p.Ser464Arg
NM_001166550.3:c.1122C>G	NP_001160022.1:p.Ser374Arg
NM_000202.8:c.1392C>G MANE Select	NP_000193.1:p.Ser464Arg
NM_001166550.4:c.1122C>G	NP_001160022.1:p.Ser374Arg