Canonical Allele Identifier: CA414522341

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148579734T>G (hg19) ; chrX:g.149498203T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498203T>G , CM000685.2:g.149498203T>G	GRCh38
NC_000023.10:g.148579734T>G , CM000685.1:g.148579734T>G	GRCh37
NC_000023.9:g.148387639T>G	NCBI36
NG_011900.3:g.12132A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.612A>C MANE Select	ENSP00000339801.6:p.Gln204His
ENST00000651111.1:c.-22A>C	ENSP00000498395.1:n.-22A>C
ENST00000340855.10:c.612A>C	ENSP00000339801.6:p.Gln204His
ENST00000370441.8:c.612A>C	ENSP00000359470.4:p.Gln204His
ENST00000422081.6:c.-22A>C	ENSP00000477056.1:n.-22A>C
ENST00000441880.1:n.114-11105A>C
ENST00000464251.5:c.538A>C	ENSP00000428980.1:n.538A>C
ENST00000466019.1:n.64A>C
ENST00000466323.5:c.612A>C	ENSP00000418264.1:p.Gln204His
ENST00000490775.5:n.397A>C
ENST00000523759.5:n.726A>C
NM_000202.6:c.612A>C	NP_000193.1:p.Gln204His
NM_001166550.2:c.342A>C	NP_001160022.1:p.Gln114His
NM_006123.4:c.612A>C	NP_006114.1:p.Gln204His
NR_104128.1:n.829A>C
NM_000202.7:c.612A>C	NP_000193.1:p.Gln204His
NM_001166550.3:c.342A>C	NP_001160022.1:p.Gln114His
NM_000202.8:c.612A>C MANE Select	NP_000193.1:p.Gln204His
NM_001166550.4:c.342A>C	NP_001160022.1:p.Gln114His
NM_006123.5:c.612A>C	NP_006114.1:p.Gln204His
NR_104128.2:n.781A>C