Canonical Allele Identifier: CA519057712
Gene: IDS HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.148571912G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149490381G>T , CM000685.2:g.149490381G>T GRCh38
NC_000023.10:g.148571912G>T , CM000685.1:g.148571912G>T GRCh37
NC_000023.9:g.148379817G>T NCBI36
NG_011900.3:g.19954C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.939C>A MANE Select ENSP00000339801.6:p.Arg313=
ENST00000651111.1:c.306C>A ENSP00000498395.1:p.Arg102=
ENST00000340855.10:c.939C>A ENSP00000339801.6:p.Arg313=
ENST00000370441.8:c.939C>A ENSP00000359470.4:p.Arg313=
ENST00000422081.6:c.306C>A ENSP00000477056.1:p.Arg102=
ENST00000441880.1:n.114-3283C>A
ENST00000464251.5:c.865C>A ENSP00000428980.1:n.865C>A
ENST00000466323.5:c.*130C>A ENSP00000418264.1:n.*130C>A
ENST00000490775.5:n.724C>A
NM_000202.6:c.939C>A NP_000193.1:p.Arg313=
NM_001166550.2:c.669C>A NP_001160022.1:p.Arg223=
NM_006123.4:c.939C>A NP_006114.1:p.Arg313=
NR_104128.1:n.1286C>A
NM_000202.7:c.939C>A NP_000193.1:p.Arg313=
NM_001166550.3:c.669C>A NP_001160022.1:p.Arg223=
NM_000202.8:c.939C>A MANE Select NP_000193.1:p.Arg313=
NM_001166550.4:c.669C>A NP_001160022.1:p.Arg223=
NM_006123.5:c.939C>A NP_006114.1:p.Arg313=
NR_104128.2:n.1238C>A