Canonical Allele Identifier: CA414521881

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148577943C>A (hg19) ; chrX:g.149496412C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149496412C>A , CM000685.2:g.149496412C>A	GRCh38
NC_000023.10:g.148577943C>A , CM000685.1:g.148577943C>A	GRCh37
NC_000023.9:g.148385848C>A	NCBI36
NG_011900.3:g.13923G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.813G>T MANE Select	ENSP00000339801.6:p.Arg271Ser
ENST00000651111.1:c.180G>T	ENSP00000498395.1:p.Arg60Ser
ENST00000340855.10:c.813G>T	ENSP00000339801.6:p.Arg271Ser
ENST00000370441.8:c.813G>T	ENSP00000359470.4:p.Arg271Ser
ENST00000422081.6:c.180G>T	ENSP00000477056.1:p.Arg60Ser
ENST00000441880.1:n.114-9314G>T
ENST00000464251.5:c.739G>T	ENSP00000428980.1:n.739G>T
ENST00000466019.1:n.265G>T
ENST00000466323.5:c.813G>T	ENSP00000418264.1:p.Arg271Ser
ENST00000490775.5:n.598G>T
NM_000202.6:c.813G>T	NP_000193.1:p.Arg271Ser
NM_001166550.2:c.543G>T	NP_001160022.1:p.Arg181Ser
NM_006123.4:c.813G>T	NP_006114.1:p.Arg271Ser
NR_104128.1:n.1030G>T
NM_000202.7:c.813G>T	NP_000193.1:p.Arg271Ser
NM_001166550.3:c.543G>T	NP_001160022.1:p.Arg181Ser
NM_000202.8:c.813G>T MANE Select	NP_000193.1:p.Arg271Ser
NM_001166550.4:c.543G>T	NP_001160022.1:p.Arg181Ser
NM_006123.5:c.813G>T	NP_006114.1:p.Arg271Ser
NR_104128.2:n.982G>T