Canonical Allele Identifier: CA519057629
Gene: IDS HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.148568616A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149487085A>C , CM000685.2:g.149487085A>C GRCh38
NC_000023.10:g.148568616A>C , CM000685.1:g.148568616A>C GRCh37
NC_000023.9:g.148376521A>C NCBI36
NG_011900.3:g.23250T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1020T>G MANE Select ENSP00000339801.6:p.Gly340=
ENST00000651111.1:c.387T>G ENSP00000498395.1:p.Gly129=
ENST00000340855.10:c.1020T>G ENSP00000339801.6:p.Gly340=
ENST00000422081.6:c.387T>G ENSP00000477056.1:p.Gly129=
ENST00000441880.1:n.127T>G
NM_000202.6:c.1020T>G NP_000193.1:p.Gly340=
NM_001166550.2:c.750T>G NP_001160022.1:p.Gly250=
NM_000202.7:c.1020T>G NP_000193.1:p.Gly340=
NM_001166550.3:c.750T>G NP_001160022.1:p.Gly250=
NM_000202.8:c.1020T>G MANE Select NP_000193.1:p.Gly340=
NM_001166550.4:c.750T>G NP_001160022.1:p.Gly250=