Canonical Allele Identifier: CA10537623

Gene: IDS

Linked Data

• dbSNP Id: rs138520751
• ExAC: X:148579605 C / T
• gnomAD v2: X-148579605-C-T
• gnomAD v3: X-149498074-C-T
• gnomAD v4: X-149498074-C-T
• MyVariant Identifiers: chrX:g.148579605C>T (hg19) ; chrX:g.149498074C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498074C>T , CM000685.2:g.149498074C>T	GRCh38
NC_000023.10:g.148579605C>T , CM000685.1:g.148579605C>T	GRCh37
NC_000023.9:g.148387510C>T	NCBI36
NG_011900.3:g.12261G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.708+33G>A MANE Select	ENSP00000339801.6:n.708+33G>A
ENST00000651111.1:c.75+33G>A	ENSP00000498395.1:n.75+33G>A
ENST00000340855.10:c.708+33G>A	ENSP00000339801.6:n.708+33G>A
ENST00000370441.8:c.708+33G>A	ENSP00000359470.4:n.708+33G>A
ENST00000422081.6:c.75+33G>A	ENSP00000477056.1:n.75+33G>A
ENST00000441880.1:n.114-10976G>A
ENST00000464251.5:c.634+33G>A	ENSP00000428980.1:n.634+33G>A
ENST00000466019.1:n.160+33G>A
ENST00000466323.5:c.708+33G>A	ENSP00000418264.1:n.708+33G>A
ENST00000490775.5:n.493+33G>A
NM_000202.6:c.708+33G>A	NP_000193.1:n.708+33G>A
NM_001166550.2:c.438+33G>A	NP_001160022.1:n.438+33G>A
NM_006123.4:c.708+33G>A	NP_006114.1:n.708+33G>A
NR_104128.1:n.925+33G>A
NM_000202.7:c.708+33G>A	NP_000193.1:n.708+33G>A
NM_001166550.3:c.438+33G>A	NP_001160022.1:n.438+33G>A
NM_000202.8:c.708+33G>A MANE Select	NP_000193.1:n.708+33G>A
NM_001166550.4:c.438+33G>A	NP_001160022.1:n.438+33G>A
NM_006123.5:c.708+33G>A	NP_006114.1:n.708+33G>A
NR_104128.2:n.877+33G>A