Canonical Allele Identifier: CA414520303
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149490398C>T , CM000685.2:g.149490398C>T GRCh38
NC_000023.10:g.148571929C>T , CM000685.1:g.148571929C>T GRCh37
NC_000023.9:g.148379834C>T NCBI36
NG_011900.3:g.19937G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.922G>A MANE Select ENSP00000339801.6:p.Asp308Asn
ENST00000651111.1:c.289G>A ENSP00000498395.1:p.Asp97Asn
ENST00000340855.10:c.922G>A ENSP00000339801.6:p.Asp308Asn
ENST00000370441.8:c.922G>A ENSP00000359470.4:p.Asp308Asn
ENST00000422081.6:c.289G>A ENSP00000477056.1:p.Asp97Asn
ENST00000441880.1:n.114-3300G>A
ENST00000464251.5:c.848G>A ENSP00000428980.1:n.848G>A
ENST00000466323.5:c.*113G>A ENSP00000418264.1:n.*113G>A
ENST00000490775.5:n.707G>A
NM_000202.6:c.922G>A NP_000193.1:p.Asp308Asn
NM_001166550.2:c.652G>A NP_001160022.1:p.Asp218Asn
NM_006123.4:c.922G>A NP_006114.1:p.Asp308Asn
NR_104128.1:n.1269G>A
NM_000202.7:c.922G>A NP_000193.1:p.Asp308Asn
NM_001166550.3:c.652G>A NP_001160022.1:p.Asp218Asn
NM_000202.8:c.922G>A MANE Select NP_000193.1:p.Asp308Asn
NM_001166550.4:c.652G>A NP_001160022.1:p.Asp218Asn
NM_006123.5:c.922G>A NP_006114.1:p.Asp308Asn
NR_104128.2:n.1221G>A