Canonical Allele Identifier: CA414520172

Gene: IDS

Linked Data

• dbSNP Id: rs2089379574
• gnomAD v4: X-149490374-T-G
• MyVariant Identifiers: chrX:g.148571905T>G (hg19) ; chrX:g.149490374T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490374T>G , CM000685.2:g.149490374T>G	GRCh38
NC_000023.10:g.148571905T>G , CM000685.1:g.148571905T>G	GRCh37
NC_000023.9:g.148379810T>G	NCBI36
NG_011900.3:g.19961A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.946A>C MANE Select	ENSP00000339801.6:p.Ser316Arg
ENST00000651111.1:c.313A>C	ENSP00000498395.1:p.Ser105Arg
ENST00000340855.10:c.946A>C	ENSP00000339801.6:p.Ser316Arg
ENST00000370441.8:c.946A>C	ENSP00000359470.4:p.Ser316Arg
ENST00000422081.6:c.313A>C	ENSP00000477056.1:p.Ser105Arg
ENST00000441880.1:n.114-3276A>C
ENST00000464251.5:c.872A>C	ENSP00000428980.1:n.872A>C
ENST00000466323.5:c.*137A>C	ENSP00000418264.1:n.*137A>C
ENST00000490775.5:n.731A>C
NM_000202.6:c.946A>C	NP_000193.1:p.Ser316Arg
NM_001166550.2:c.676A>C	NP_001160022.1:p.Ser226Arg
NM_006123.4:c.946A>C	NP_006114.1:p.Ser316Arg
NR_104128.1:n.1293A>C
NM_000202.7:c.946A>C	NP_000193.1:p.Ser316Arg
NM_001166550.3:c.676A>C	NP_001160022.1:p.Ser226Arg
NM_000202.8:c.946A>C MANE Select	NP_000193.1:p.Ser316Arg
NM_001166550.4:c.676A>C	NP_001160022.1:p.Ser226Arg
NM_006123.5:c.946A>C	NP_006114.1:p.Ser316Arg
NR_104128.2:n.1245A>C