Canonical Allele Identifier: CA414520037

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148571884G>C (hg19) ; chrX:g.149490353G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490353G>C , CM000685.2:g.149490353G>C	GRCh38
NC_000023.10:g.148571884G>C , CM000685.1:g.148571884G>C	GRCh37
NC_000023.9:g.148379789G>C	NCBI36
NG_011900.3:g.19982C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.967C>G MANE Select	ENSP00000339801.6:p.Leu323Val
ENST00000651111.1:c.334C>G	ENSP00000498395.1:p.Leu112Val
ENST00000340855.10:c.967C>G	ENSP00000339801.6:p.Leu323Val
ENST00000370441.8:c.967C>G	ENSP00000359470.4:p.Leu323Val
ENST00000422081.6:c.334C>G	ENSP00000477056.1:p.Leu112Val
ENST00000441880.1:n.114-3255C>G
ENST00000464251.5:c.893C>G	ENSP00000428980.1:n.893C>G
ENST00000466323.5:c.*158C>G	ENSP00000418264.1:n.*158C>G
ENST00000490775.5:n.752C>G
NM_000202.6:c.967C>G	NP_000193.1:p.Leu323Val
NM_001166550.2:c.697C>G	NP_001160022.1:p.Leu233Val
NM_006123.4:c.967C>G	NP_006114.1:p.Leu323Val
NR_104128.1:n.1314C>G
NM_000202.7:c.967C>G	NP_000193.1:p.Leu323Val
NM_001166550.3:c.697C>G	NP_001160022.1:p.Leu233Val
NM_000202.8:c.967C>G MANE Select	NP_000193.1:p.Leu323Val
NM_001166550.4:c.697C>G	NP_001160022.1:p.Leu233Val
NM_006123.5:c.967C>G	NP_006114.1:p.Leu323Val
NR_104128.2:n.1266C>G