Canonical Allele Identifier: CA519058446
Gene: IDS HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.148579833A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498302A>G , CM000685.2:g.149498302A>G GRCh38
NC_000023.10:g.148579833A>G , CM000685.1:g.148579833A>G GRCh37
NC_000023.9:g.148387738A>G NCBI36
NG_011900.3:g.12033T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.513T>C MANE Select ENSP00000339801.6:p.Cys171=
ENST00000651111.1:c.-121T>C ENSP00000498395.1:n.-121T>C
ENST00000340855.10:c.513T>C ENSP00000339801.6:p.Cys171=
ENST00000370441.8:c.513T>C ENSP00000359470.4:p.Cys171=
ENST00000422081.6:c.-121T>C ENSP00000477056.1:n.-121T>C
ENST00000441880.1:n.114-11204T>C
ENST00000464251.5:c.439T>C ENSP00000428980.1:n.439T>C
ENST00000466323.5:c.513T>C ENSP00000418264.1:p.Cys171=
ENST00000490775.5:n.298T>C
ENST00000523759.5:n.627T>C
NM_000202.6:c.513T>C NP_000193.1:p.Cys171=
NM_001166550.2:c.243T>C NP_001160022.1:p.Cys81=
NM_006123.4:c.513T>C NP_006114.1:p.Cys171=
NR_104128.1:n.730T>C
NM_000202.7:c.513T>C NP_000193.1:p.Cys171=
NM_001166550.3:c.243T>C NP_001160022.1:p.Cys81=
NM_000202.8:c.513T>C MANE Select NP_000193.1:p.Cys171=
NM_001166550.4:c.243T>C NP_001160022.1:p.Cys81=
NM_006123.5:c.513T>C NP_006114.1:p.Cys171=
NR_104128.2:n.682T>C