Canonical Allele Identifier: CA414522156
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498120A>T , CM000685.2:g.149498120A>T GRCh38
NC_000023.10:g.148579651A>T , CM000685.1:g.148579651A>T GRCh37
NC_000023.9:g.148387556A>T NCBI36
NG_011900.3:g.12215T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.695T>A MANE Select ENSP00000339801.6:p.Phe232Tyr
ENST00000651111.1:c.62T>A ENSP00000498395.1:p.Phe21Tyr
ENST00000340855.10:c.695T>A ENSP00000339801.6:p.Phe232Tyr
ENST00000370441.8:c.695T>A ENSP00000359470.4:p.Phe232Tyr
ENST00000422081.6:c.62T>A ENSP00000477056.1:p.Phe21Tyr
ENST00000441880.1:n.114-11022T>A
ENST00000464251.5:c.621T>A ENSP00000428980.1:n.621T>A
ENST00000466019.1:n.147T>A
ENST00000466323.5:c.695T>A ENSP00000418264.1:p.Phe232Tyr
ENST00000490775.5:n.480T>A
NM_000202.6:c.695T>A NP_000193.1:p.Phe232Tyr
NM_001166550.2:c.425T>A NP_001160022.1:p.Phe142Tyr
NM_006123.4:c.695T>A NP_006114.1:p.Phe232Tyr
NR_104128.1:n.912T>A
NM_000202.7:c.695T>A NP_000193.1:p.Phe232Tyr
NM_001166550.3:c.425T>A NP_001160022.1:p.Phe142Tyr
NM_000202.8:c.695T>A MANE Select NP_000193.1:p.Phe232Tyr
NM_001166550.4:c.425T>A NP_001160022.1:p.Phe142Tyr
NM_006123.5:c.695T>A NP_006114.1:p.Phe232Tyr
NR_104128.2:n.864T>A