Canonical Allele Identifier: CA414520418

Gene: IDS

Linked Data

• dbSNP Id: rs1557338602
• gnomAD v2: X-148571949-A-G
• gnomAD v4: X-149490418-A-G
• MyVariant Identifiers: chrX:g.148571949A>G (hg19) ; chrX:g.149490418A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490418A>G , CM000685.2:g.149490418A>G	GRCh38
NC_000023.10:g.148571949A>G , CM000685.1:g.148571949A>G	GRCh37
NC_000023.9:g.148379854A>G	NCBI36
NG_011900.3:g.19917T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.902T>C MANE Select	ENSP00000339801.6:p.Phe301Ser
ENST00000651111.1:c.269T>C	ENSP00000498395.1:p.Phe90Ser
ENST00000340855.10:c.902T>C	ENSP00000339801.6:p.Phe301Ser
ENST00000370441.8:c.902T>C	ENSP00000359470.4:p.Phe301Ser
ENST00000422081.6:c.269T>C	ENSP00000477056.1:p.Phe90Ser
ENST00000441880.1:n.114-3320T>C
ENST00000464251.5:c.828T>C	ENSP00000428980.1:n.828T>C
ENST00000466323.5:c.*93T>C	ENSP00000418264.1:n.*93T>C
ENST00000490775.5:n.687T>C
NM_000202.6:c.902T>C	NP_000193.1:p.Phe301Ser
NM_001166550.2:c.632T>C	NP_001160022.1:p.Phe211Ser
NM_006123.4:c.902T>C	NP_006114.1:p.Phe301Ser
NR_104128.1:n.1249T>C
NM_000202.7:c.902T>C	NP_000193.1:p.Phe301Ser
NM_001166550.3:c.632T>C	NP_001160022.1:p.Phe211Ser
NM_000202.8:c.902T>C MANE Select	NP_000193.1:p.Phe301Ser
NM_001166550.4:c.632T>C	NP_001160022.1:p.Phe211Ser
NM_006123.5:c.902T>C	NP_006114.1:p.Phe301Ser
NR_104128.2:n.1201T>C