Canonical Allele Identifier: CA414520211

Gene: IDS

Linked Data

• COSMIC: COSM4618901 ; COSM4618902
• MyVariant Identifiers: chrX:g.148571913C>G (hg19) ; chrX:g.149490382C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490382C>G , CM000685.2:g.149490382C>G	GRCh38
NC_000023.10:g.148571913C>G , CM000685.1:g.148571913C>G	GRCh37
NC_000023.9:g.148379818C>G	NCBI36
NG_011900.3:g.19953G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.938G>C MANE Select	ENSP00000339801.6:p.Arg313Pro
ENST00000651111.1:c.305G>C	ENSP00000498395.1:p.Arg102Pro
ENST00000340855.10:c.938G>C	ENSP00000339801.6:p.Arg313Pro
ENST00000370441.8:c.938G>C	ENSP00000359470.4:p.Arg313Pro
ENST00000422081.6:c.305G>C	ENSP00000477056.1:p.Arg102Pro
ENST00000441880.1:n.114-3284G>C
ENST00000464251.5:c.864G>C	ENSP00000428980.1:n.864G>C
ENST00000466323.5:c.*129G>C	ENSP00000418264.1:n.*129G>C
ENST00000490775.5:n.723G>C
NM_000202.6:c.938G>C	NP_000193.1:p.Arg313Pro
NM_001166550.2:c.668G>C	NP_001160022.1:p.Arg223Pro
NM_006123.4:c.938G>C	NP_006114.1:p.Arg313Pro
NR_104128.1:n.1285G>C
NM_000202.7:c.938G>C	NP_000193.1:p.Arg313Pro
NM_001166550.3:c.668G>C	NP_001160022.1:p.Arg223Pro
NM_000202.8:c.938G>C MANE Select	NP_000193.1:p.Arg313Pro
NM_001166550.4:c.668G>C	NP_001160022.1:p.Arg223Pro
NM_006123.5:c.938G>C	NP_006114.1:p.Arg313Pro
NR_104128.2:n.1237G>C