Canonical Allele Identifier: CA349381
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 221213
ClinVar RCV Id: RCV000205196
dbSNP Id: rs193302912

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149490385C>T , CM000685.2:g.149490385C>T GRCh38
NC_000023.10:g.148571916C>T , CM000685.1:g.148571916C>T GRCh37
NC_000023.9:g.148379821C>T NCBI36
NG_011900.3:g.19950G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.935G>A MANE Select ENSP00000339801.6:p.Gly312Asp
ENST00000651111.1:c.302G>A ENSP00000498395.1:p.Gly101Asp
ENST00000340855.10:c.935G>A ENSP00000339801.6:p.Gly312Asp
ENST00000370441.8:c.935G>A ENSP00000359470.4:p.Gly312Asp
ENST00000422081.6:c.302G>A ENSP00000477056.1:p.Gly101Asp
ENST00000441880.1:n.114-3287G>A
ENST00000464251.5:c.861G>A ENSP00000428980.1:n.861G>A
ENST00000466323.5:c.*126G>A ENSP00000418264.1:n.*126G>A
ENST00000490775.5:n.720G>A
NM_000202.6:c.935G>A NP_000193.1:p.Gly312Asp
NM_001166550.2:c.665G>A NP_001160022.1:p.Gly222Asp
NM_006123.4:c.935G>A NP_006114.1:p.Gly312Asp
NR_104128.1:n.1282G>A
NM_000202.7:c.935G>A NP_000193.1:p.Gly312Asp
NM_001166550.3:c.665G>A NP_001160022.1:p.Gly222Asp
NM_000202.8:c.935G>A MANE Select NP_000193.1:p.Gly312Asp
NM_001166550.4:c.665G>A NP_001160022.1:p.Gly222Asp
NM_006123.5:c.935G>A NP_006114.1:p.Gly312Asp
NR_104128.2:n.1234G>A