Canonical Allele Identifier: CA220490

Gene: IDS

Linked Data

• ClinVar Variation Id: 92615
• ClinVar RCV Id: RCV000180472 ; RCV004526612
• dbSNP Id: rs113993946
• MyVariant Identifiers: chrX:g.148564527C>G (hg19) ; chrX:g.149482996C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482996C>G , CM000685.2:g.149482996C>G	GRCh38
NC_000023.10:g.148564527C>G , CM000685.1:g.148564527C>G	GRCh37
NC_000023.9:g.148372432C>G	NCBI36
NG_011900.3:g.27339G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1403G>C MANE Select	ENSP00000339801.6:p.Arg468Pro
ENST00000651111.1:c.770G>C	ENSP00000498395.1:p.Arg257Pro
ENST00000340855.10:c.1403G>C	ENSP00000339801.6:p.Arg468Pro
ENST00000422081.6:c.770G>C	ENSP00000477056.1:p.Arg257Pro
NM_000202.6:c.1403G>C	NP_000193.1:p.Arg468Pro
NM_001166550.2:c.1133G>C	NP_001160022.1:p.Arg378Pro
NM_000202.7:c.1403G>C	NP_000193.1:p.Arg468Pro
NM_001166550.3:c.1133G>C	NP_001160022.1:p.Arg378Pro
NM_000202.8:c.1403G>C MANE Select	NP_000193.1:p.Arg468Pro
NM_001166550.4:c.1133G>C	NP_001160022.1:p.Arg378Pro