Canonical Allele Identifier: CA356948

Gene: IDS

Linked Data

• ClinVar Variation Id: 221977
• ClinVar RCV Id: RCV000207376
• dbSNP Id: rs113993947
• MyVariant Identifiers: chrX:g.148579839C>G (hg19) ; chrX:g.149498308C>G (hg38)
• PubMed: PMID:26762690

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498308C>G , CM000685.2:g.149498308C>G	GRCh38
NC_000023.10:g.148579839C>G , CM000685.1:g.148579839C>G	GRCh37
NC_000023.9:g.148387744C>G	NCBI36
NG_011900.3:g.12027G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.508-1G>C MANE Select	ENSP00000339801.6:n.508-1G>C
ENST00000651111.1:c.-126-1G>C	ENSP00000498395.1:n.-126-1G>C
ENST00000340855.10:c.508-1G>C	ENSP00000339801.6:n.508-1G>C
ENST00000370441.8:c.508-1G>C	ENSP00000359470.4:n.508-1G>C
ENST00000422081.6:c.-126-1G>C	ENSP00000477056.1:n.-126-1G>C
ENST00000441880.1:n.114-11210G>C
ENST00000464251.5:c.434-1G>C	ENSP00000428980.1:n.434-1G>C
ENST00000466323.5:c.508-1G>C	ENSP00000418264.1:n.508-1G>C
ENST00000490775.5:n.293-1G>C
ENST00000523759.5:n.622-1G>C
NM_000202.6:c.508-1G>C	NP_000193.1:n.508-1G>C
NM_001166550.2:c.238-1G>C	NP_001160022.1:n.238-1G>C
NM_006123.4:c.508-1G>C	NP_006114.1:n.508-1G>C
NR_104128.1:n.725-1G>C
NM_000202.7:c.508-1G>C	NP_000193.1:n.508-1G>C
NM_001166550.3:c.238-1G>C	NP_001160022.1:n.238-1G>C
NM_000202.8:c.508-1G>C MANE Select	NP_000193.1:n.508-1G>C
NM_001166550.4:c.238-1G>C	NP_001160022.1:n.238-1G>C
NM_006123.5:c.508-1G>C	NP_006114.1:n.508-1G>C
NR_104128.2:n.677-1G>C