Canonical Allele Identifier: CA349093
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 221214
ClinVar RCV Id: RCV000204905
dbSNP Id: rs193302907
MyVariant Identifiers: chrX:g.148577936C>A (hg19) chrX:g.149496405C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149496405C>A , CM000685.2:g.149496405C>A GRCh38
NC_000023.10:g.148577936C>A , CM000685.1:g.148577936C>A GRCh37
NC_000023.9:g.148385841C>A NCBI36
NG_011900.3:g.13930G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.820G>T MANE Select ENSP00000339801.6:p.Glu274Ter
ENST00000651111.1:c.187G>T ENSP00000498395.1:p.Glu63Ter
ENST00000340855.10:c.820G>T ENSP00000339801.6:p.Glu274Ter
ENST00000370441.8:c.820G>T ENSP00000359470.4:p.Glu274Ter
ENST00000422081.6:c.187G>T ENSP00000477056.1:p.Glu63Ter
ENST00000441880.1:n.114-9307G>T
ENST00000464251.5:c.746G>T ENSP00000428980.1:n.746G>T
ENST00000466019.1:n.272G>T
ENST00000466323.5:c.820G>T ENSP00000418264.1:p.Glu274Ter
ENST00000490775.5:n.605G>T
NM_000202.6:c.820G>T NP_000193.1:p.Glu274Ter
NM_001166550.2:c.550G>T NP_001160022.1:p.Glu184Ter
NM_006123.4:c.820G>T NP_006114.1:p.Glu274Ter
NR_104128.1:n.1037G>T
NM_000202.7:c.820G>T NP_000193.1:p.Glu274Ter
NM_001166550.3:c.550G>T NP_001160022.1:p.Glu184Ter
NM_000202.8:c.820G>T MANE Select NP_000193.1:p.Glu274Ter
NM_001166550.4:c.550G>T NP_001160022.1:p.Glu184Ter
NM_006123.5:c.820G>T NP_006114.1:p.Glu274Ter
NR_104128.2:n.989G>T
Search 100 bp 5'
Search 100 bp 3'