Canonical Allele Identifier: CA414520030

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148571883A>C (hg19) ; chrX:g.149490352A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490352A>C , CM000685.2:g.149490352A>C	GRCh38
NC_000023.10:g.148571883A>C , CM000685.1:g.148571883A>C	GRCh37
NC_000023.9:g.148379788A>C	NCBI36
NG_011900.3:g.19983T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.968T>G MANE Select	ENSP00000339801.6:p.Leu323Arg
ENST00000651111.1:c.335T>G	ENSP00000498395.1:p.Leu112Arg
ENST00000340855.10:c.968T>G	ENSP00000339801.6:p.Leu323Arg
ENST00000370441.8:c.968T>G	ENSP00000359470.4:p.Leu323Arg
ENST00000422081.6:c.335T>G	ENSP00000477056.1:p.Leu112Arg
ENST00000441880.1:n.114-3254T>G
ENST00000464251.5:c.894T>G	ENSP00000428980.1:n.894T>G
ENST00000466323.5:c.*159T>G	ENSP00000418264.1:n.*159T>G
ENST00000490775.5:n.753T>G
NM_000202.6:c.968T>G	NP_000193.1:p.Leu323Arg
NM_001166550.2:c.698T>G	NP_001160022.1:p.Leu233Arg
NM_006123.4:c.968T>G	NP_006114.1:p.Leu323Arg
NR_104128.1:n.1315T>G
NM_000202.7:c.968T>G	NP_000193.1:p.Leu323Arg
NM_001166550.3:c.698T>G	NP_001160022.1:p.Leu233Arg
NM_000202.8:c.968T>G MANE Select	NP_000193.1:p.Leu323Arg
NM_001166550.4:c.698T>G	NP_001160022.1:p.Leu233Arg
NM_006123.5:c.968T>G	NP_006114.1:p.Leu323Arg
NR_104128.2:n.1267T>G