Canonical Allele Identifier: CA414520426

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148571950A>G (hg19) ; chrX:g.149490419A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490419A>G , CM000685.2:g.149490419A>G	GRCh38
NC_000023.10:g.148571950A>G , CM000685.1:g.148571950A>G	GRCh37
NC_000023.9:g.148379855A>G	NCBI36
NG_011900.3:g.19916T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.901T>C MANE Select	ENSP00000339801.6:p.Phe301Leu
ENST00000651111.1:c.268T>C	ENSP00000498395.1:p.Phe90Leu
ENST00000340855.10:c.901T>C	ENSP00000339801.6:p.Phe301Leu
ENST00000370441.8:c.901T>C	ENSP00000359470.4:p.Phe301Leu
ENST00000422081.6:c.268T>C	ENSP00000477056.1:p.Phe90Leu
ENST00000441880.1:n.114-3321T>C
ENST00000464251.5:c.827T>C	ENSP00000428980.1:n.827T>C
ENST00000466323.5:c.*92T>C	ENSP00000418264.1:n.*92T>C
ENST00000490775.5:n.686T>C
NM_000202.6:c.901T>C	NP_000193.1:p.Phe301Leu
NM_001166550.2:c.631T>C	NP_001160022.1:p.Phe211Leu
NM_006123.4:c.901T>C	NP_006114.1:p.Phe301Leu
NR_104128.1:n.1248T>C
NM_000202.7:c.901T>C	NP_000193.1:p.Phe301Leu
NM_001166550.3:c.631T>C	NP_001160022.1:p.Phe211Leu
NM_000202.8:c.901T>C MANE Select	NP_000193.1:p.Phe301Leu
NM_001166550.4:c.631T>C	NP_001160022.1:p.Phe211Leu
NM_006123.5:c.901T>C	NP_006114.1:p.Phe301Leu
NR_104128.2:n.1200T>C