Canonical Allele Identifier: CA414522569
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498290A>C , CM000685.2:g.149498290A>C GRCh38
NC_000023.10:g.148579821A>C , CM000685.1:g.148579821A>C GRCh37
NC_000023.9:g.148387726A>C NCBI36
NG_011900.3:g.12045T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.525T>G MANE Select ENSP00000339801.6:p.Asp175Glu
ENST00000651111.1:c.-109T>G ENSP00000498395.1:n.-109T>G
ENST00000340855.10:c.525T>G ENSP00000339801.6:p.Asp175Glu
ENST00000370441.8:c.525T>G ENSP00000359470.4:p.Asp175Glu
ENST00000422081.6:c.-109T>G ENSP00000477056.1:n.-109T>G
ENST00000441880.1:n.114-11192T>G
ENST00000464251.5:c.451T>G ENSP00000428980.1:n.451T>G
ENST00000466323.5:c.525T>G ENSP00000418264.1:p.Asp175Glu
ENST00000490775.5:n.310T>G
ENST00000523759.5:n.639T>G
NM_000202.6:c.525T>G NP_000193.1:p.Asp175Glu
NM_001166550.2:c.255T>G NP_001160022.1:p.Asp85Glu
NM_006123.4:c.525T>G NP_006114.1:p.Asp175Glu
NR_104128.1:n.742T>G
NM_000202.7:c.525T>G NP_000193.1:p.Asp175Glu
NM_001166550.3:c.255T>G NP_001160022.1:p.Asp85Glu
NM_000202.8:c.525T>G MANE Select NP_000193.1:p.Asp175Glu
NM_001166550.4:c.255T>G NP_001160022.1:p.Asp85Glu
NM_006123.5:c.525T>G NP_006114.1:p.Asp175Glu
NR_104128.2:n.694T>G