Canonical Allele Identifier: CA414520081
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149490360A>C , CM000685.2:g.149490360A>C GRCh38
NC_000023.10:g.148571891A>C , CM000685.1:g.148571891A>C GRCh37
NC_000023.9:g.148379796A>C NCBI36
NG_011900.3:g.19975T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.960T>G MANE Select ENSP00000339801.6:p.Asp320Glu
ENST00000651111.1:c.327T>G ENSP00000498395.1:p.Asp109Glu
ENST00000340855.10:c.960T>G ENSP00000339801.6:p.Asp320Glu
ENST00000370441.8:c.960T>G ENSP00000359470.4:p.Asp320Glu
ENST00000422081.6:c.327T>G ENSP00000477056.1:p.Asp109Glu
ENST00000441880.1:n.114-3262T>G
ENST00000464251.5:c.886T>G ENSP00000428980.1:n.886T>G
ENST00000466323.5:c.*151T>G ENSP00000418264.1:n.*151T>G
ENST00000490775.5:n.745T>G
NM_000202.6:c.960T>G NP_000193.1:p.Asp320Glu
NM_001166550.2:c.690T>G NP_001160022.1:p.Asp230Glu
NM_006123.4:c.960T>G NP_006114.1:p.Asp320Glu
NR_104128.1:n.1307T>G
NM_000202.7:c.960T>G NP_000193.1:p.Asp320Glu
NM_001166550.3:c.690T>G NP_001160022.1:p.Asp230Glu
NM_000202.8:c.960T>G MANE Select NP_000193.1:p.Asp320Glu
NM_001166550.4:c.690T>G NP_001160022.1:p.Asp230Glu
NM_006123.5:c.960T>G NP_006114.1:p.Asp320Glu
NR_104128.2:n.1259T>G