Canonical Allele Identifier: CA414522573
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498291T>G , CM000685.2:g.149498291T>G GRCh38
NC_000023.10:g.148579822T>G , CM000685.1:g.148579822T>G GRCh37
NC_000023.9:g.148387727T>G NCBI36
NG_011900.3:g.12044A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.524A>C MANE Select ENSP00000339801.6:p.Asp175Ala
ENST00000651111.1:c.-110A>C ENSP00000498395.1:n.-110A>C
ENST00000340855.10:c.524A>C ENSP00000339801.6:p.Asp175Ala
ENST00000370441.8:c.524A>C ENSP00000359470.4:p.Asp175Ala
ENST00000422081.6:c.-110A>C ENSP00000477056.1:n.-110A>C
ENST00000441880.1:n.114-11193A>C
ENST00000464251.5:c.450A>C ENSP00000428980.1:n.450A>C
ENST00000466323.5:c.524A>C ENSP00000418264.1:p.Asp175Ala
ENST00000490775.5:n.309A>C
ENST00000523759.5:n.638A>C
NM_000202.6:c.524A>C NP_000193.1:p.Asp175Ala
NM_001166550.2:c.254A>C NP_001160022.1:p.Asp85Ala
NM_006123.4:c.524A>C NP_006114.1:p.Asp175Ala
NR_104128.1:n.741A>C
NM_000202.7:c.524A>C NP_000193.1:p.Asp175Ala
NM_001166550.3:c.254A>C NP_001160022.1:p.Asp85Ala
NM_000202.8:c.524A>C MANE Select NP_000193.1:p.Asp175Ala
NM_001166550.4:c.254A>C NP_001160022.1:p.Asp85Ala
NM_006123.5:c.524A>C NP_006114.1:p.Asp175Ala
NR_104128.2:n.693A>C