Canonical Allele Identifier: CA414521910

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148577954T>C (hg19) ; chrX:g.149496423T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149496423T>C , CM000685.2:g.149496423T>C	GRCh38
NC_000023.10:g.148577954T>C , CM000685.1:g.148577954T>C	GRCh37
NC_000023.9:g.148385859T>C	NCBI36
NG_011900.3:g.13912A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.802A>G MANE Select	ENSP00000339801.6:p.Met268Val
ENST00000651111.1:c.169A>G	ENSP00000498395.1:p.Met57Val
ENST00000340855.10:c.802A>G	ENSP00000339801.6:p.Met268Val
ENST00000370441.8:c.802A>G	ENSP00000359470.4:p.Met268Val
ENST00000422081.6:c.169A>G	ENSP00000477056.1:p.Met57Val
ENST00000441880.1:n.114-9325A>G
ENST00000464251.5:c.728A>G	ENSP00000428980.1:n.728A>G
ENST00000466019.1:n.254A>G
ENST00000466323.5:c.802A>G	ENSP00000418264.1:p.Met268Val
ENST00000490775.5:n.587A>G
NM_000202.6:c.802A>G	NP_000193.1:p.Met268Val
NM_001166550.2:c.532A>G	NP_001160022.1:p.Met178Val
NM_006123.4:c.802A>G	NP_006114.1:p.Met268Val
NR_104128.1:n.1019A>G
NM_000202.7:c.802A>G	NP_000193.1:p.Met268Val
NM_001166550.3:c.532A>G	NP_001160022.1:p.Met178Val
NM_000202.8:c.802A>G MANE Select	NP_000193.1:p.Met268Val
NM_001166550.4:c.532A>G	NP_001160022.1:p.Met178Val
NM_006123.5:c.802A>G	NP_006114.1:p.Met268Val
NR_104128.2:n.971A>G