Canonical Allele Identifier: CA337036439
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 2737387
ClinVar RCV Id: RCV003509087
dbSNP Id: rs193302905
MyVariant Identifiers: chrX:g.148579660T>C (hg19) chrX:g.149498129T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498129T>C , CM000685.2:g.149498129T>C GRCh38
NC_000023.10:g.148579660T>C , CM000685.1:g.148579660T>C GRCh37
NC_000023.9:g.148387565T>C NCBI36
NG_011900.3:g.12206A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.686A>G MANE Select ENSP00000339801.6:p.His229Arg
ENST00000651111.1:c.53A>G ENSP00000498395.1:p.His18Arg
ENST00000340855.10:c.686A>G ENSP00000339801.6:p.His229Arg
ENST00000370441.8:c.686A>G ENSP00000359470.4:p.His229Arg
ENST00000422081.6:c.53A>G ENSP00000477056.1:p.His18Arg
ENST00000441880.1:n.114-11031A>G
ENST00000464251.5:c.612A>G ENSP00000428980.1:n.612A>G
ENST00000466019.1:n.138A>G
ENST00000466323.5:c.686A>G ENSP00000418264.1:p.His229Arg
ENST00000490775.5:n.471A>G
NM_000202.6:c.686A>G NP_000193.1:p.His229Arg
NM_001166550.2:c.416A>G NP_001160022.1:p.His139Arg
NM_006123.4:c.686A>G NP_006114.1:p.His229Arg
NR_104128.1:n.903A>G
NM_000202.7:c.686A>G NP_000193.1:p.His229Arg
NM_001166550.3:c.416A>G NP_001160022.1:p.His139Arg
NM_000202.8:c.686A>G MANE Select NP_000193.1:p.His229Arg
NM_001166550.4:c.416A>G NP_001160022.1:p.His139Arg
NM_006123.5:c.686A>G NP_006114.1:p.His229Arg
NR_104128.2:n.855A>G
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