Canonical Allele Identifier: CA414520238

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148571919A>T (hg19) ; chrX:g.149490388A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490388A>T , CM000685.2:g.149490388A>T	GRCh38
NC_000023.10:g.148571919A>T , CM000685.1:g.148571919A>T	GRCh37
NC_000023.9:g.148379824A>T	NCBI36
NG_011900.3:g.19947T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.932T>A MANE Select	ENSP00000339801.6:p.Val311Asp
ENST00000651111.1:c.299T>A	ENSP00000498395.1:p.Val100Asp
ENST00000340855.10:c.932T>A	ENSP00000339801.6:p.Val311Asp
ENST00000370441.8:c.932T>A	ENSP00000359470.4:p.Val311Asp
ENST00000422081.6:c.299T>A	ENSP00000477056.1:p.Val100Asp
ENST00000441880.1:n.114-3290T>A
ENST00000464251.5:c.858T>A	ENSP00000428980.1:n.858T>A
ENST00000466323.5:c.*123T>A	ENSP00000418264.1:n.*123T>A
ENST00000490775.5:n.717T>A
NM_000202.6:c.932T>A	NP_000193.1:p.Val311Asp
NM_001166550.2:c.662T>A	NP_001160022.1:p.Val221Asp
NM_006123.4:c.932T>A	NP_006114.1:p.Val311Asp
NR_104128.1:n.1279T>A
NM_000202.7:c.932T>A	NP_000193.1:p.Val311Asp
NM_001166550.3:c.662T>A	NP_001160022.1:p.Val221Asp
NM_000202.8:c.932T>A MANE Select	NP_000193.1:p.Val311Asp
NM_001166550.4:c.662T>A	NP_001160022.1:p.Val221Asp
NM_006123.5:c.932T>A	NP_006114.1:p.Val311Asp
NR_104128.2:n.1231T>A