Canonical Allele Identifier: CA414519896

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148571860A>G (hg19) ; chrX:g.149490329A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490329A>G , CM000685.2:g.149490329A>G	GRCh38
NC_000023.10:g.148571860A>G , CM000685.1:g.148571860A>G	GRCh37
NC_000023.9:g.148379765A>G	NCBI36
NG_011900.3:g.20006T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.991T>C MANE Select	ENSP00000339801.6:p.Phe331Leu
ENST00000651111.1:c.358T>C	ENSP00000498395.1:p.Phe120Leu
ENST00000340855.10:c.991T>C	ENSP00000339801.6:p.Phe331Leu
ENST00000370441.8:c.991T>C	ENSP00000359470.4:p.Phe331Leu
ENST00000422081.6:c.358T>C	ENSP00000477056.1:p.Phe120Leu
ENST00000441880.1:n.114-3231T>C
ENST00000464251.5:c.917T>C	ENSP00000428980.1:n.917T>C
ENST00000466323.5:c.*182T>C	ENSP00000418264.1:n.*182T>C
ENST00000490775.5:n.776T>C
NM_000202.6:c.991T>C	NP_000193.1:p.Phe331Leu
NM_001166550.2:c.721T>C	NP_001160022.1:p.Phe241Leu
NM_006123.4:c.991T>C	NP_006114.1:p.Phe331Leu
NR_104128.1:n.1338T>C
NM_000202.7:c.991T>C	NP_000193.1:p.Phe331Leu
NM_001166550.3:c.721T>C	NP_001160022.1:p.Phe241Leu
NM_000202.8:c.991T>C MANE Select	NP_000193.1:p.Phe331Leu
NM_001166550.4:c.721T>C	NP_001160022.1:p.Phe241Leu
NM_006123.5:c.991T>C	NP_006114.1:p.Phe331Leu
NR_104128.2:n.1290T>C