Canonical Allele Identifier: CA414526109

Gene: IDS

Linked Data

• ClinVar Variation Id: 2577240
• ClinVar RCV Id: RCV003324317
• gnomAD v4: X-149503380-G-A
• MyVariant Identifiers: chrX:g.148584910G>A (hg19) ; chrX:g.149503380G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503380G>A , CM000685.2:g.149503380G>A	GRCh38
NC_000023.10:g.148584910G>A , CM000685.1:g.148584910G>A	GRCh37
NC_000023.9:g.148392815G>A	NCBI36
NG_011900.3:g.6955C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.350C>T MANE Select	ENSP00000339801.6:p.Ser117Phe
ENST00000651111.1:c.-215-2343C>T	ENSP00000498395.1:n.-215-2343C>T
ENST00000340855.10:c.350C>T	ENSP00000339801.6:p.Ser117Phe
ENST00000370441.8:c.350C>T	ENSP00000359470.4:p.Ser117Phe
ENST00000422081.6:c.-215-2343C>T	ENSP00000477056.1:n.-215-2343C>T
ENST00000427113.2:n.770-1157C>T
ENST00000428056.6:c.350C>T	ENSP00000390241.2:p.Ser117Phe
ENST00000441880.1:n.114-16282C>T
ENST00000464251.5:c.173C>T	ENSP00000428980.1:p.Ser58Phe
ENST00000466323.5:c.350C>T	ENSP00000418264.1:p.Ser117Phe
ENST00000490775.5:n.9C>T
ENST00000523759.5:n.533-2343C>T
NM_000202.6:c.350C>T	NP_000193.1:p.Ser117Phe
NM_001166550.2:c.80C>T	NP_001160022.1:p.Ser27Phe
NM_006123.4:c.350C>T	NP_006114.1:p.Ser117Phe
NR_104128.1:n.567C>T
NM_000202.7:c.350C>T	NP_000193.1:p.Ser117Phe
NM_001166550.3:c.80C>T	NP_001160022.1:p.Ser27Phe
NM_000202.8:c.350C>T MANE Select	NP_000193.1:p.Ser117Phe
NM_001166550.4:c.80C>T	NP_001160022.1:p.Ser27Phe
NM_006123.5:c.350C>T	NP_006114.1:p.Ser117Phe
NR_104128.2:n.519C>T