Canonical Allele Identifier: CA414521772

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148577894T>A (hg19) ; chrX:g.149496363T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149496363T>A , CM000685.2:g.149496363T>A	GRCh38
NC_000023.10:g.148577894T>A , CM000685.1:g.148577894T>A	GRCh37
NC_000023.9:g.148385799T>A	NCBI36
NG_011900.3:g.13972A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.862A>T MANE Select	ENSP00000339801.6:p.Ile288Phe
ENST00000651111.1:c.229A>T	ENSP00000498395.1:p.Ile77Phe
ENST00000340855.10:c.862A>T	ENSP00000339801.6:p.Ile288Phe
ENST00000370441.8:c.862A>T	ENSP00000359470.4:p.Ile288Phe
ENST00000422081.6:c.229A>T	ENSP00000477056.1:p.Ile77Phe
ENST00000441880.1:n.114-9265A>T
ENST00000464251.5:c.788A>T	ENSP00000428980.1:n.788A>T
ENST00000466019.1:n.314A>T
ENST00000466323.5:c.862A>T	ENSP00000418264.1:p.Ile288Phe
ENST00000490775.5:n.647A>T
NM_000202.6:c.862A>T	NP_000193.1:p.Ile288Phe
NM_001166550.2:c.592A>T	NP_001160022.1:p.Ile198Phe
NM_006123.4:c.862A>T	NP_006114.1:p.Ile288Phe
NR_104128.1:n.1079A>T
NM_000202.7:c.862A>T	NP_000193.1:p.Ile288Phe
NM_001166550.3:c.592A>T	NP_001160022.1:p.Ile198Phe
NM_000202.8:c.862A>T MANE Select	NP_000193.1:p.Ile288Phe
NM_001166550.4:c.592A>T	NP_001160022.1:p.Ile198Phe
NM_006123.5:c.862A>T	NP_006114.1:p.Ile288Phe
NR_104128.2:n.1031A>T