Canonical Allele Identifier: CA414518789

Gene: IDS

Linked Data

• ClinVar Variation Id: 1302719
• ClinVar RCV Id: RCV001762786 ; RCV003509682
• dbSNP Id: rs2124005760
• gnomAD v4: X-149486984-C-A
• MyVariant Identifiers: chrX:g.148568515C>A (hg19) ; chrX:g.149486984C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149486984C>A , CM000685.2:g.149486984C>A	GRCh38
NC_000023.10:g.148568515C>A , CM000685.1:g.148568515C>A	GRCh37
NC_000023.9:g.148376420C>A	NCBI36
NG_011900.3:g.23351G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1121G>T MANE Select	ENSP00000339801.6:p.Gly374Val
ENST00000651111.1:c.488G>T	ENSP00000498395.1:p.Gly163Val
ENST00000340855.10:c.1121G>T	ENSP00000339801.6:p.Gly374Val
ENST00000422081.6:c.488G>T	ENSP00000477056.1:p.Gly163Val
ENST00000441880.1:n.228G>T
NM_000202.6:c.1121G>T	NP_000193.1:p.Gly374Val
NM_001166550.2:c.851G>T	NP_001160022.1:p.Gly284Val
NM_000202.7:c.1121G>T	NP_000193.1:p.Gly374Val
NM_001166550.3:c.851G>T	NP_001160022.1:p.Gly284Val
NM_000202.8:c.1121G>T MANE Select	NP_000193.1:p.Gly374Val
NM_001166550.4:c.851G>T	NP_001160022.1:p.Gly284Val