Canonical Allele Identifier: CA414522359
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498207T>G , CM000685.2:g.149498207T>G GRCh38
NC_000023.10:g.148579738T>G , CM000685.1:g.148579738T>G GRCh37
NC_000023.9:g.148387643T>G NCBI36
NG_011900.3:g.12128A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.608A>C MANE Select ENSP00000339801.6:p.Glu203Ala
ENST00000651111.1:c.-26A>C ENSP00000498395.1:n.-26A>C
ENST00000340855.10:c.608A>C ENSP00000339801.6:p.Glu203Ala
ENST00000370441.8:c.608A>C ENSP00000359470.4:p.Glu203Ala
ENST00000422081.6:c.-26A>C ENSP00000477056.1:n.-26A>C
ENST00000441880.1:n.114-11109A>C
ENST00000464251.5:c.534A>C ENSP00000428980.1:n.534A>C
ENST00000466019.1:n.60A>C
ENST00000466323.5:c.608A>C ENSP00000418264.1:p.Glu203Ala
ENST00000490775.5:n.393A>C
ENST00000523759.5:n.722A>C
NM_000202.6:c.608A>C NP_000193.1:p.Glu203Ala
NM_001166550.2:c.338A>C NP_001160022.1:p.Glu113Ala
NM_006123.4:c.608A>C NP_006114.1:p.Glu203Ala
NR_104128.1:n.825A>C
NM_000202.7:c.608A>C NP_000193.1:p.Glu203Ala
NM_001166550.3:c.338A>C NP_001160022.1:p.Glu113Ala
NM_000202.8:c.608A>C MANE Select NP_000193.1:p.Glu203Ala
NM_001166550.4:c.338A>C NP_001160022.1:p.Glu113Ala
NM_006123.5:c.608A>C NP_006114.1:p.Glu203Ala
NR_104128.2:n.777A>C