Canonical Allele Identifier: CA414520177

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148571906C>G (hg19) ; chrX:g.149490375C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490375C>G , CM000685.2:g.149490375C>G	GRCh38
NC_000023.10:g.148571906C>G , CM000685.1:g.148571906C>G	GRCh37
NC_000023.9:g.148379811C>G	NCBI36
NG_011900.3:g.19960G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.945G>C MANE Select	ENSP00000339801.6:p.Leu315Phe
ENST00000651111.1:c.312G>C	ENSP00000498395.1:p.Leu104Phe
ENST00000340855.10:c.945G>C	ENSP00000339801.6:p.Leu315Phe
ENST00000370441.8:c.945G>C	ENSP00000359470.4:p.Leu315Phe
ENST00000422081.6:c.312G>C	ENSP00000477056.1:p.Leu104Phe
ENST00000441880.1:n.114-3277G>C
ENST00000464251.5:c.871G>C	ENSP00000428980.1:n.871G>C
ENST00000466323.5:c.*136G>C	ENSP00000418264.1:n.*136G>C
ENST00000490775.5:n.730G>C
NM_000202.6:c.945G>C	NP_000193.1:p.Leu315Phe
NM_001166550.2:c.675G>C	NP_001160022.1:p.Leu225Phe
NM_006123.4:c.945G>C	NP_006114.1:p.Leu315Phe
NR_104128.1:n.1292G>C
NM_000202.7:c.945G>C	NP_000193.1:p.Leu315Phe
NM_001166550.3:c.675G>C	NP_001160022.1:p.Leu225Phe
NM_000202.8:c.945G>C MANE Select	NP_000193.1:p.Leu315Phe
NM_001166550.4:c.675G>C	NP_001160022.1:p.Leu225Phe
NM_006123.5:c.945G>C	NP_006114.1:p.Leu315Phe
NR_104128.2:n.1244G>C