Canonical Allele Identifier: CA414522193

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148579668A>C (hg19) ; chrX:g.149498137A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498137A>C , CM000685.2:g.149498137A>C	GRCh38
NC_000023.10:g.148579668A>C , CM000685.1:g.148579668A>C	GRCh37
NC_000023.9:g.148387573A>C	NCBI36
NG_011900.3:g.12198T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.678T>G MANE Select	ENSP00000339801.6:p.His226Gln
ENST00000651111.1:c.45T>G	ENSP00000498395.1:p.His15Gln
ENST00000340855.10:c.678T>G	ENSP00000339801.6:p.His226Gln
ENST00000370441.8:c.678T>G	ENSP00000359470.4:p.His226Gln
ENST00000422081.6:c.45T>G	ENSP00000477056.1:p.His15Gln
ENST00000441880.1:n.114-11039T>G
ENST00000464251.5:c.604T>G	ENSP00000428980.1:n.604T>G
ENST00000466019.1:n.130T>G
ENST00000466323.5:c.678T>G	ENSP00000418264.1:p.His226Gln
ENST00000490775.5:n.463T>G
NM_000202.6:c.678T>G	NP_000193.1:p.His226Gln
NM_001166550.2:c.408T>G	NP_001160022.1:p.His136Gln
NM_006123.4:c.678T>G	NP_006114.1:p.His226Gln
NR_104128.1:n.895T>G
NM_000202.7:c.678T>G	NP_000193.1:p.His226Gln
NM_001166550.3:c.408T>G	NP_001160022.1:p.His136Gln
NM_000202.8:c.678T>G MANE Select	NP_000193.1:p.His226Gln
NM_001166550.4:c.408T>G	NP_001160022.1:p.His136Gln
NM_006123.5:c.678T>G	NP_006114.1:p.His226Gln
NR_104128.2:n.847T>G