Canonical Allele Identifier: CA10537491
Gene: IDS HGNC NCBI

Linked Data

dbSNP Id: rs370125505

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149486961C>T , CM000685.2:g.149486961C>T GRCh38
NC_000023.10:g.148568492C>T , CM000685.1:g.148568492C>T GRCh37
NC_000023.9:g.148376397C>T NCBI36
NG_011900.3:g.23374G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1144G>A MANE Select ENSP00000339801.6:p.Asp382Asn
ENST00000651111.1:c.511G>A ENSP00000498395.1:p.Asp171Asn
ENST00000340855.10:c.1144G>A ENSP00000339801.6:p.Asp382Asn
ENST00000422081.6:c.511G>A ENSP00000477056.1:p.Asp171Asn
ENST00000441880.1:n.251G>A
NM_000202.6:c.1144G>A NP_000193.1:p.Asp382Asn
NM_001166550.2:c.874G>A NP_001160022.1:p.Asp292Asn
NM_000202.7:c.1144G>A NP_000193.1:p.Asp382Asn
NM_001166550.3:c.874G>A NP_001160022.1:p.Asp292Asn
NM_000202.8:c.1144G>A MANE Select NP_000193.1:p.Asp382Asn
NM_001166550.4:c.874G>A NP_001160022.1:p.Asp292Asn