Canonical Allele Identifier: CA414526935

Gene: IDS

Linked Data

• ClinVar Variation Id: 502523
• ClinVar RCV Id: RCV000593133
• dbSNP Id: rs1557340286
• gnomAD v4: X-149503478-G-T
• MyVariant Identifiers: chrX:g.148585008G>T (hg19) ; chrX:g.149503478G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503478G>T , CM000685.2:g.149503478G>T	GRCh38
NC_000023.10:g.148585008G>T , CM000685.1:g.148585008G>T	GRCh37
NC_000023.9:g.148392913G>T	NCBI36
NG_011900.3:g.6857C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.252C>A MANE Select	ENSP00000339801.6:p.Cys84Ter
ENST00000651111.1:c.-215-2441C>A	ENSP00000498395.1:n.-215-2441C>A
ENST00000340855.10:c.252C>A	ENSP00000339801.6:p.Cys84Ter
ENST00000370441.8:c.252C>A	ENSP00000359470.4:p.Cys84Ter
ENST00000422081.6:c.-215-2441C>A	ENSP00000477056.1:n.-215-2441C>A
ENST00000427113.2:n.770-1255C>A
ENST00000428056.6:c.252C>A	ENSP00000390241.2:p.Cys84Ter
ENST00000441880.1:n.114-16380C>A
ENST00000464251.5:c.75C>A	ENSP00000428980.1:p.Cys25Ter
ENST00000466323.5:c.252C>A	ENSP00000418264.1:p.Cys84Ter
ENST00000521702.1:c.252C>A	ENSP00000429745.1:p.Cys84Ter
ENST00000523759.5:n.533-2441C>A
NM_000202.6:c.252C>A	NP_000193.1:p.Cys84Ter
NM_001166550.2:c.15-33C>A	NP_001160022.1:n.15-33C>A
NM_006123.4:c.252C>A	NP_006114.1:p.Cys84Ter
NR_104128.1:n.469C>A
NM_000202.7:c.252C>A	NP_000193.1:p.Cys84Ter
NM_001166550.3:c.15-33C>A	NP_001160022.1:n.15-33C>A
NM_000202.8:c.252C>A MANE Select	NP_000193.1:p.Cys84Ter
NM_001166550.4:c.15-33C>A	NP_001160022.1:n.15-33C>A
NM_006123.5:c.252C>A	NP_006114.1:p.Cys84Ter
NR_104128.2:n.421C>A