Canonical Allele Identifier: CA519057614
Gene: IDS HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.148568577A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149487046A>T , CM000685.2:g.149487046A>T GRCh38
NC_000023.10:g.148568577A>T , CM000685.1:g.148568577A>T GRCh37
NC_000023.9:g.148376482A>T NCBI36
NG_011900.3:g.23289T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1059T>A MANE Select ENSP00000339801.6:p.Val353=
ENST00000651111.1:c.426T>A ENSP00000498395.1:p.Val142=
ENST00000340855.10:c.1059T>A ENSP00000339801.6:p.Val353=
ENST00000422081.6:c.426T>A ENSP00000477056.1:p.Val142=
ENST00000441880.1:n.166T>A
NM_000202.6:c.1059T>A NP_000193.1:p.Val353=
NM_001166550.2:c.789T>A NP_001160022.1:p.Val263=
NM_000202.7:c.1059T>A NP_000193.1:p.Val353=
NM_001166550.3:c.789T>A NP_001160022.1:p.Val263=
NM_000202.8:c.1059T>A MANE Select NP_000193.1:p.Val353=
NM_001166550.4:c.789T>A NP_001160022.1:p.Val263=