Canonical Allele Identifier: CA414525917

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148584889T>A (hg19) ; chrX:g.149503359T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503359T>A , CM000685.2:g.149503359T>A	GRCh38
NC_000023.10:g.148584889T>A , CM000685.1:g.148584889T>A	GRCh37
NC_000023.9:g.148392794T>A	NCBI36
NG_011900.3:g.6976A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.371A>T MANE Select	ENSP00000339801.6:p.Lys124Met
ENST00000651111.1:c.-215-2322A>T	ENSP00000498395.1:n.-215-2322A>T
ENST00000340855.10:c.371A>T	ENSP00000339801.6:p.Lys124Met
ENST00000370441.8:c.371A>T	ENSP00000359470.4:p.Lys124Met
ENST00000422081.6:c.-215-2322A>T	ENSP00000477056.1:n.-215-2322A>T
ENST00000427113.2:n.770-1136A>T
ENST00000428056.6:c.371A>T	ENSP00000390241.2:p.Lys124Met
ENST00000441880.1:n.114-16261A>T
ENST00000464251.5:c.194A>T	ENSP00000428980.1:p.Lys65Met
ENST00000466323.5:c.371A>T	ENSP00000418264.1:p.Lys124Met
ENST00000490775.5:n.30A>T
ENST00000523759.5:n.533-2322A>T
NM_000202.6:c.371A>T	NP_000193.1:p.Lys124Met
NM_001166550.2:c.101A>T	NP_001160022.1:p.Lys34Met
NM_006123.4:c.371A>T	NP_006114.1:p.Lys124Met
NR_104128.1:n.588A>T
NM_000202.7:c.371A>T	NP_000193.1:p.Lys124Met
NM_001166550.3:c.101A>T	NP_001160022.1:p.Lys34Met
NM_000202.8:c.371A>T MANE Select	NP_000193.1:p.Lys124Met
NM_001166550.4:c.101A>T	NP_001160022.1:p.Lys34Met
NM_006123.5:c.371A>T	NP_006114.1:p.Lys124Met
NR_104128.2:n.540A>T