Canonical Allele Identifier: CA519057628
Gene: IDS HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.148568613T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149487082T>C , CM000685.2:g.149487082T>C GRCh38
NC_000023.10:g.148568613T>C , CM000685.1:g.148568613T>C GRCh37
NC_000023.9:g.148376518T>C NCBI36
NG_011900.3:g.23253A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1023A>G MANE Select ENSP00000339801.6:p.Glu341=
ENST00000651111.1:c.390A>G ENSP00000498395.1:p.Glu130=
ENST00000340855.10:c.1023A>G ENSP00000339801.6:p.Glu341=
ENST00000422081.6:c.390A>G ENSP00000477056.1:p.Glu130=
ENST00000441880.1:n.130A>G
NM_000202.6:c.1023A>G NP_000193.1:p.Glu341=
NM_001166550.2:c.753A>G NP_001160022.1:p.Glu251=
NM_000202.7:c.1023A>G NP_000193.1:p.Glu341=
NM_001166550.3:c.753A>G NP_001160022.1:p.Glu251=
NM_000202.8:c.1023A>G MANE Select NP_000193.1:p.Glu341=
NM_001166550.4:c.753A>G NP_001160022.1:p.Glu251=