Canonical Allele Identifier: CA414522484

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148579785A>T (hg19) ; chrX:g.149498254A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498254A>T , CM000685.2:g.149498254A>T	GRCh38
NC_000023.10:g.148579785A>T , CM000685.1:g.148579785A>T	GRCh37
NC_000023.9:g.148387690A>T	NCBI36
NG_011900.3:g.12081T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.561T>A MANE Select	ENSP00000339801.6:p.Asp187Glu
ENST00000651111.1:c.-73T>A	ENSP00000498395.1:n.-73T>A
ENST00000340855.10:c.561T>A	ENSP00000339801.6:p.Asp187Glu
ENST00000370441.8:c.561T>A	ENSP00000359470.4:p.Asp187Glu
ENST00000422081.6:c.-73T>A	ENSP00000477056.1:n.-73T>A
ENST00000441880.1:n.114-11156T>A
ENST00000464251.5:c.487T>A	ENSP00000428980.1:n.487T>A
ENST00000466019.1:n.13T>A
ENST00000466323.5:c.561T>A	ENSP00000418264.1:p.Asp187Glu
ENST00000490775.5:n.346T>A
ENST00000523759.5:n.675T>A
NM_000202.6:c.561T>A	NP_000193.1:p.Asp187Glu
NM_001166550.2:c.291T>A	NP_001160022.1:p.Asp97Glu
NM_006123.4:c.561T>A	NP_006114.1:p.Asp187Glu
NR_104128.1:n.778T>A
NM_000202.7:c.561T>A	NP_000193.1:p.Asp187Glu
NM_001166550.3:c.291T>A	NP_001160022.1:p.Asp97Glu
NM_000202.8:c.561T>A MANE Select	NP_000193.1:p.Asp187Glu
NM_001166550.4:c.291T>A	NP_001160022.1:p.Asp97Glu
NM_006123.5:c.561T>A	NP_006114.1:p.Asp187Glu
NR_104128.2:n.730T>A