Canonical Allele Identifier: CA519059245

Gene: IDS

Linked Data

• gnomAD v4: X-149500952-A-G
• MyVariant Identifiers: chrX:g.148582483A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149500952A>G , CM000685.2:g.149500952A>G	GRCh38
NC_000023.10:g.148582483A>G , CM000685.1:g.148582483A>G	GRCh37
NC_000023.9:g.148390388A>G	NCBI36
NG_011900.3:g.9383T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.504T>C MANE Select	ENSP00000339801.6:p.Thr168=
ENST00000651111.1:c.-130T>C	ENSP00000498395.1:n.-130T>C
ENST00000340855.10:c.504T>C	ENSP00000339801.6:p.Thr168=
ENST00000370441.8:c.504T>C	ENSP00000359470.4:p.Thr168=
ENST00000422081.6:c.-130T>C	ENSP00000477056.1:n.-130T>C
ENST00000441880.1:n.114-13854T>C
ENST00000464251.5:c.430T>C	ENSP00000428980.1:n.430T>C
ENST00000466323.5:c.504T>C	ENSP00000418264.1:p.Thr168=
ENST00000490775.5:n.163T>C
ENST00000523759.5:n.618T>C
NM_000202.6:c.504T>C	NP_000193.1:p.Thr168=
NM_001166550.2:c.234T>C	NP_001160022.1:p.Thr78=
NM_006123.4:c.504T>C	NP_006114.1:p.Thr168=
NR_104128.1:n.721T>C
NM_000202.7:c.504T>C	NP_000193.1:p.Thr168=
NM_001166550.3:c.234T>C	NP_001160022.1:p.Thr78=
NM_000202.8:c.504T>C MANE Select	NP_000193.1:p.Thr168=
NM_001166550.4:c.234T>C	NP_001160022.1:p.Thr78=
NM_006123.5:c.504T>C	NP_006114.1:p.Thr168=
NR_104128.2:n.673T>C