Canonical Allele Identifier: CA414522519

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148579801A>G (hg19) ; chrX:g.149498270A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498270A>G , CM000685.2:g.149498270A>G	GRCh38
NC_000023.10:g.148579801A>G , CM000685.1:g.148579801A>G	GRCh37
NC_000023.9:g.148387706A>G	NCBI36
NG_011900.3:g.12065T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.545T>C MANE Select	ENSP00000339801.6:p.Leu182Pro
ENST00000651111.1:c.-89T>C	ENSP00000498395.1:n.-89T>C
ENST00000340855.10:c.545T>C	ENSP00000339801.6:p.Leu182Pro
ENST00000370441.8:c.545T>C	ENSP00000359470.4:p.Leu182Pro
ENST00000422081.6:c.-89T>C	ENSP00000477056.1:n.-89T>C
ENST00000441880.1:n.114-11172T>C
ENST00000464251.5:c.471T>C	ENSP00000428980.1:n.471T>C
ENST00000466323.5:c.545T>C	ENSP00000418264.1:p.Leu182Pro
ENST00000490775.5:n.330T>C
ENST00000523759.5:n.659T>C
NM_000202.6:c.545T>C	NP_000193.1:p.Leu182Pro
NM_001166550.2:c.275T>C	NP_001160022.1:p.Leu92Pro
NM_006123.4:c.545T>C	NP_006114.1:p.Leu182Pro
NR_104128.1:n.762T>C
NM_000202.7:c.545T>C	NP_000193.1:p.Leu182Pro
NM_001166550.3:c.275T>C	NP_001160022.1:p.Leu92Pro
NM_000202.8:c.545T>C MANE Select	NP_000193.1:p.Leu182Pro
NM_001166550.4:c.275T>C	NP_001160022.1:p.Leu92Pro
NM_006123.5:c.545T>C	NP_006114.1:p.Leu182Pro
NR_104128.2:n.714T>C