Canonical Allele Identifier: CA337035530

Gene: IDS

Linked Data

• ClinVar Variation Id: 1117303
• ClinVar RCV Id: RCV001445975
• dbSNP Id: rs920711197
• MyVariant Identifiers: chrX:g.148564577C>G (hg19) ; chrX:g.149483046C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483046C>G , CM000685.2:g.149483046C>G	GRCh38
NC_000023.10:g.148564577C>G , CM000685.1:g.148564577C>G	GRCh37
NC_000023.9:g.148372482C>G	NCBI36
NG_011900.3:g.27289G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1353G>C MANE Select	ENSP00000339801.6:p.Pro451=
ENST00000651111.1:c.720G>C	ENSP00000498395.1:p.Pro240=
ENST00000340855.10:c.1353G>C	ENSP00000339801.6:p.Pro451=
ENST00000422081.6:c.720G>C	ENSP00000477056.1:p.Pro240=
NM_000202.6:c.1353G>C	NP_000193.1:p.Pro451=
NM_001166550.2:c.1083G>C	NP_001160022.1:p.Pro361=
NM_000202.7:c.1353G>C	NP_000193.1:p.Pro451=
NM_001166550.3:c.1083G>C	NP_001160022.1:p.Pro361=
NM_000202.8:c.1353G>C MANE Select	NP_000193.1:p.Pro451=
NM_001166550.4:c.1083G>C	NP_001160022.1:p.Pro361=