Canonical Allele Identifier: CA645070590

Gene: IDS

Linked Data

• dbSNP Id: rs1557339876
• gnomAD v2: X-148582412-T-G
• gnomAD v3: X-149500881-T-G
• gnomAD v4: X-149500881-T-G
• MyVariant Identifiers: chrX:g.148582412T>G (hg19) ; chrX:g.149500881T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149500881T>G , CM000685.2:g.149500881T>G	GRCh38
NC_000023.10:g.148582412T>G , CM000685.1:g.148582412T>G	GRCh37
NC_000023.9:g.148390317T>G	NCBI36
NG_011900.3:g.9454A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.507+68A>C MANE Select	ENSP00000339801.6:n.507+68A>C
ENST00000651111.1:c.-127+68A>C	ENSP00000498395.1:n.-127+68A>C
ENST00000340855.10:c.507+68A>C	ENSP00000339801.6:n.507+68A>C
ENST00000370441.8:c.507+68A>C	ENSP00000359470.4:n.507+68A>C
ENST00000422081.6:c.-127+68A>C	ENSP00000477056.1:n.-127+68A>C
ENST00000441880.1:n.114-13783A>C
ENST00000464251.5:c.433+68A>C	ENSP00000428980.1:n.433+68A>C
ENST00000466323.5:c.507+68A>C	ENSP00000418264.1:n.507+68A>C
ENST00000490775.5:n.166+68A>C
ENST00000523759.5:n.621+68A>C
NM_000202.6:c.507+68A>C	NP_000193.1:n.507+68A>C
NM_001166550.2:c.237+68A>C	NP_001160022.1:n.237+68A>C
NM_006123.4:c.507+68A>C	NP_006114.1:n.507+68A>C
NR_104128.1:n.724+68A>C
NM_000202.7:c.507+68A>C	NP_000193.1:n.507+68A>C
NM_001166550.3:c.237+68A>C	NP_001160022.1:n.237+68A>C
NM_000202.8:c.507+68A>C MANE Select	NP_000193.1:n.507+68A>C
NM_001166550.4:c.237+68A>C	NP_001160022.1:n.237+68A>C
NM_006123.5:c.507+68A>C	NP_006114.1:n.507+68A>C
NR_104128.2:n.676+68A>C