Canonical Allele Identifier: CA10537463
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 755034
ClinVar RCV Id: RCV000932404
dbSNP Id: rs782203657
ExAC: X:148564637 C / G
gnomAD v2: X-148564637-C-G
gnomAD v4: X-149483106-C-G
MyVariant Identifiers: chrX:g.148564637C>G (hg19) chrX:g.149483106C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149483106C>G , CM000685.2:g.149483106C>G GRCh38
NC_000023.10:g.148564637C>G , CM000685.1:g.148564637C>G GRCh37
NC_000023.9:g.148372542C>G NCBI36
NG_011900.3:g.27229G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1293G>C MANE Select ENSP00000339801.6:p.Leu431=
ENST00000651111.1:c.660G>C ENSP00000498395.1:p.Leu220=
ENST00000340855.10:c.1293G>C ENSP00000339801.6:p.Leu431=
ENST00000422081.6:c.660G>C ENSP00000477056.1:p.Leu220=
ENST00000441880.1:n.400G>C
NM_000202.6:c.1293G>C NP_000193.1:p.Leu431=
NM_001166550.2:c.1023G>C NP_001160022.1:p.Leu341=
NM_000202.7:c.1293G>C NP_000193.1:p.Leu431=
NM_001166550.3:c.1023G>C NP_001160022.1:p.Leu341=
NM_000202.8:c.1293G>C MANE Select NP_000193.1:p.Leu431=
NM_001166550.4:c.1023G>C NP_001160022.1:p.Leu341=
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