Canonical Allele Identifier: CA414520359

Gene: IDS

Linked Data

• ClinVar Variation Id: 1509067
• ClinVar RCV Id: RCV002017626
• dbSNP Id: rs2124020632
• MyVariant Identifiers: chrX:g.148571938A>G (hg19) ; chrX:g.149490407A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490407A>G , CM000685.2:g.149490407A>G	GRCh38
NC_000023.10:g.148571938A>G , CM000685.1:g.148571938A>G	GRCh37
NC_000023.9:g.148379843A>G	NCBI36
NG_011900.3:g.19928T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.913T>C MANE Select	ENSP00000339801.6:p.Ser305Pro
ENST00000651111.1:c.280T>C	ENSP00000498395.1:p.Ser94Pro
ENST00000340855.10:c.913T>C	ENSP00000339801.6:p.Ser305Pro
ENST00000370441.8:c.913T>C	ENSP00000359470.4:p.Ser305Pro
ENST00000422081.6:c.280T>C	ENSP00000477056.1:p.Ser94Pro
ENST00000441880.1:n.114-3309T>C
ENST00000464251.5:c.839T>C	ENSP00000428980.1:n.839T>C
ENST00000466323.5:c.*104T>C	ENSP00000418264.1:n.*104T>C
ENST00000490775.5:n.698T>C
NM_000202.6:c.913T>C	NP_000193.1:p.Ser305Pro
NM_001166550.2:c.643T>C	NP_001160022.1:p.Ser215Pro
NM_006123.4:c.913T>C	NP_006114.1:p.Ser305Pro
NR_104128.1:n.1260T>C
NM_000202.7:c.913T>C	NP_000193.1:p.Ser305Pro
NM_001166550.3:c.643T>C	NP_001160022.1:p.Ser215Pro
NM_000202.8:c.913T>C MANE Select	NP_000193.1:p.Ser305Pro
NM_001166550.4:c.643T>C	NP_001160022.1:p.Ser215Pro
NM_006123.5:c.913T>C	NP_006114.1:p.Ser305Pro
NR_104128.2:n.1212T>C