Canonical Allele Identifier: CA414522397
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498214T>A , CM000685.2:g.149498214T>A GRCh38
NC_000023.10:g.148579745T>A , CM000685.1:g.148579745T>A GRCh37
NC_000023.9:g.148387650T>A NCBI36
NG_011900.3:g.12121A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.601A>T MANE Select ENSP00000339801.6:p.Ser201Cys
ENST00000651111.1:c.-33A>T ENSP00000498395.1:n.-33A>T
ENST00000340855.10:c.601A>T ENSP00000339801.6:p.Ser201Cys
ENST00000370441.8:c.601A>T ENSP00000359470.4:p.Ser201Cys
ENST00000422081.6:c.-33A>T ENSP00000477056.1:n.-33A>T
ENST00000441880.1:n.114-11116A>T
ENST00000464251.5:c.527A>T ENSP00000428980.1:n.527A>T
ENST00000466019.1:n.53A>T
ENST00000466323.5:c.601A>T ENSP00000418264.1:p.Ser201Cys
ENST00000490775.5:n.386A>T
ENST00000523759.5:n.715A>T
NM_000202.6:c.601A>T NP_000193.1:p.Ser201Cys
NM_001166550.2:c.331A>T NP_001160022.1:p.Ser111Cys
NM_006123.4:c.601A>T NP_006114.1:p.Ser201Cys
NR_104128.1:n.818A>T
NM_000202.7:c.601A>T NP_000193.1:p.Ser201Cys
NM_001166550.3:c.331A>T NP_001160022.1:p.Ser111Cys
NM_000202.8:c.601A>T MANE Select NP_000193.1:p.Ser201Cys
NM_001166550.4:c.331A>T NP_001160022.1:p.Ser111Cys
NM_006123.5:c.601A>T NP_006114.1:p.Ser201Cys
NR_104128.2:n.770A>T