Canonical Allele Identifier: CA10537439

Gene: IDS

Linked Data

• ClinVar Variation Id: 1436235
• ClinVar RCV Id: RCV001987270
• dbSNP Id: rs782228221
• ExAC: X:148564447 T / C
• gnomAD v2: X-148564447-T-C
• gnomAD v4: X-149482916-T-C
• MyVariant Identifiers: chrX:g.148564447T>C (hg19) ; chrX:g.149482916T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482916T>C , CM000685.2:g.149482916T>C	GRCh38
NC_000023.10:g.148564447T>C , CM000685.1:g.148564447T>C	GRCh37
NC_000023.9:g.148372352T>C	NCBI36
NG_011900.3:g.27419A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.1483A>G MANE Select	ENSP00000339801.6:p.Ile495Val
ENST00000651111.1:c.850A>G	ENSP00000498395.1:p.Ile284Val
ENST00000340855.10:c.1483A>G	ENSP00000339801.6:p.Ile495Val
ENST00000422081.6:c.850A>G	ENSP00000477056.1:p.Ile284Val
NM_000202.6:c.1483A>G	NP_000193.1:p.Ile495Val
NM_001166550.2:c.1213A>G	NP_001160022.1:p.Ile405Val
NM_000202.7:c.1483A>G	NP_000193.1:p.Ile495Val
NM_001166550.3:c.1213A>G	NP_001160022.1:p.Ile405Val
NM_000202.8:c.1483A>G MANE Select	NP_000193.1:p.Ile495Val
NM_001166550.4:c.1213A>G	NP_001160022.1:p.Ile405Val