Canonical Allele Identifier: CA519057613
Gene: IDS HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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