Canonical Allele Identifier: CA414526207

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148584924G>T (hg19) ; chrX:g.149503394G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503394G>T , CM000685.2:g.149503394G>T	GRCh38
NC_000023.10:g.148584924G>T , CM000685.1:g.148584924G>T	GRCh37
NC_000023.9:g.148392829G>T	NCBI36
NG_011900.3:g.6941C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.336C>A MANE Select	ENSP00000339801.6:p.His112Gln
ENST00000651111.1:c.-215-2357C>A	ENSP00000498395.1:n.-215-2357C>A
ENST00000340855.10:c.336C>A	ENSP00000339801.6:p.His112Gln
ENST00000370441.8:c.336C>A	ENSP00000359470.4:p.His112Gln
ENST00000422081.6:c.-215-2357C>A	ENSP00000477056.1:n.-215-2357C>A
ENST00000427113.2:n.770-1171C>A
ENST00000428056.6:c.336C>A	ENSP00000390241.2:p.His112Gln
ENST00000441880.1:n.114-16296C>A
ENST00000464251.5:c.159C>A	ENSP00000428980.1:p.His53Gln
ENST00000466323.5:c.336C>A	ENSP00000418264.1:p.His112Gln
ENST00000523759.5:n.533-2357C>A
NM_000202.6:c.336C>A	NP_000193.1:p.His112Gln
NM_001166550.2:c.66C>A	NP_001160022.1:p.His22Gln
NM_006123.4:c.336C>A	NP_006114.1:p.His112Gln
NR_104128.1:n.553C>A
NM_000202.7:c.336C>A	NP_000193.1:p.His112Gln
NM_001166550.3:c.66C>A	NP_001160022.1:p.His22Gln
NM_000202.8:c.336C>A MANE Select	NP_000193.1:p.His112Gln
NM_001166550.4:c.66C>A	NP_001160022.1:p.His22Gln
NM_006123.5:c.336C>A	NP_006114.1:p.His112Gln
NR_104128.2:n.505C>A