Canonical Allele Identifier: CA414520259

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148571922T>A (hg19) ; chrX:g.149490391T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490391T>A , CM000685.2:g.149490391T>A	GRCh38
NC_000023.10:g.148571922T>A , CM000685.1:g.148571922T>A	GRCh37
NC_000023.9:g.148379827T>A	NCBI36
NG_011900.3:g.19944A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.929A>T MANE Select	ENSP00000339801.6:p.Gln310Leu
ENST00000651111.1:c.296A>T	ENSP00000498395.1:p.Gln99Leu
ENST00000340855.10:c.929A>T	ENSP00000339801.6:p.Gln310Leu
ENST00000370441.8:c.929A>T	ENSP00000359470.4:p.Gln310Leu
ENST00000422081.6:c.296A>T	ENSP00000477056.1:p.Gln99Leu
ENST00000441880.1:n.114-3293A>T
ENST00000464251.5:c.855A>T	ENSP00000428980.1:n.855A>T
ENST00000466323.5:c.*120A>T	ENSP00000418264.1:n.*120A>T
ENST00000490775.5:n.714A>T
NM_000202.6:c.929A>T	NP_000193.1:p.Gln310Leu
NM_001166550.2:c.659A>T	NP_001160022.1:p.Gln220Leu
NM_006123.4:c.929A>T	NP_006114.1:p.Gln310Leu
NR_104128.1:n.1276A>T
NM_000202.7:c.929A>T	NP_000193.1:p.Gln310Leu
NM_001166550.3:c.659A>T	NP_001160022.1:p.Gln220Leu
NM_000202.8:c.929A>T MANE Select	NP_000193.1:p.Gln310Leu
NM_001166550.4:c.659A>T	NP_001160022.1:p.Gln220Leu
NM_006123.5:c.929A>T	NP_006114.1:p.Gln310Leu
NR_104128.2:n.1228A>T