Canonical Allele Identifier: CA414520110

Gene: IDS

Linked Data

• dbSNP Id: rs2089379267
• gnomAD v4: X-149490364-T-C
• MyVariant Identifiers: chrX:g.148571895T>C (hg19) ; chrX:g.149490364T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490364T>C , CM000685.2:g.149490364T>C	GRCh38
NC_000023.10:g.148571895T>C , CM000685.1:g.148571895T>C	GRCh37
NC_000023.9:g.148379800T>C	NCBI36
NG_011900.3:g.19971A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.956A>G MANE Select	ENSP00000339801.6:p.Asp319Gly
ENST00000651111.1:c.323A>G	ENSP00000498395.1:p.Asp108Gly
ENST00000340855.10:c.956A>G	ENSP00000339801.6:p.Asp319Gly
ENST00000370441.8:c.956A>G	ENSP00000359470.4:p.Asp319Gly
ENST00000422081.6:c.323A>G	ENSP00000477056.1:p.Asp108Gly
ENST00000441880.1:n.114-3266A>G
ENST00000464251.5:c.882A>G	ENSP00000428980.1:n.882A>G
ENST00000466323.5:c.*147A>G	ENSP00000418264.1:n.*147A>G
ENST00000490775.5:n.741A>G
NM_000202.6:c.956A>G	NP_000193.1:p.Asp319Gly
NM_001166550.2:c.686A>G	NP_001160022.1:p.Asp229Gly
NM_006123.4:c.956A>G	NP_006114.1:p.Asp319Gly
NR_104128.1:n.1303A>G
NM_000202.7:c.956A>G	NP_000193.1:p.Asp319Gly
NM_001166550.3:c.686A>G	NP_001160022.1:p.Asp229Gly
NM_000202.8:c.956A>G MANE Select	NP_000193.1:p.Asp319Gly
NM_001166550.4:c.686A>G	NP_001160022.1:p.Asp229Gly
NM_006123.5:c.956A>G	NP_006114.1:p.Asp319Gly
NR_104128.2:n.1255A>G