Canonical Allele Identifier: CA349811
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 221204
ClinVar RCV Id: RCV000205679
dbSNP Id: rs864622773
MyVariant Identifiers: chrX:g.148564497T>C (hg19) chrX:g.149482966T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149482966T>C , CM000685.2:g.149482966T>C GRCh38
NC_000023.10:g.148564497T>C , CM000685.1:g.148564497T>C GRCh37
NC_000023.9:g.148372402T>C NCBI36
NG_011900.3:g.27369A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.1433A>G MANE Select ENSP00000339801.6:p.Asp478Gly
ENST00000651111.1:c.800A>G ENSP00000498395.1:p.Asp267Gly
ENST00000340855.10:c.1433A>G ENSP00000339801.6:p.Asp478Gly
ENST00000422081.6:c.800A>G ENSP00000477056.1:p.Asp267Gly
NM_000202.6:c.1433A>G NP_000193.1:p.Asp478Gly
NM_001166550.2:c.1163A>G NP_001160022.1:p.Asp388Gly
NM_000202.7:c.1433A>G NP_000193.1:p.Asp478Gly
NM_001166550.3:c.1163A>G NP_001160022.1:p.Asp388Gly
NM_000202.8:c.1433A>G MANE Select NP_000193.1:p.Asp478Gly
NM_001166550.4:c.1163A>G NP_001160022.1:p.Asp388Gly
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