Canonical Allele Identifier: CA414520494

Gene: IDS

Linked Data

• dbSNP Id: rs1557338607
• gnomAD v2: X-148571959-G-T
• gnomAD v4: X-149490428-G-T
• MyVariant Identifiers: chrX:g.148571959G>T (hg19) ; chrX:g.149490428G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490428G>T , CM000685.2:g.149490428G>T	GRCh38
NC_000023.10:g.148571959G>T , CM000685.1:g.148571959G>T	GRCh37
NC_000023.9:g.148379864G>T	NCBI36
NG_011900.3:g.19907C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.892C>A MANE Select	ENSP00000339801.6:p.Gln298Lys
ENST00000651111.1:c.259C>A	ENSP00000498395.1:p.Gln87Lys
ENST00000340855.10:c.892C>A	ENSP00000339801.6:p.Gln298Lys
ENST00000370441.8:c.892C>A	ENSP00000359470.4:p.Gln298Lys
ENST00000422081.6:c.259C>A	ENSP00000477056.1:p.Gln87Lys
ENST00000441880.1:n.114-3330C>A
ENST00000464251.5:c.818C>A	ENSP00000428980.1:n.818C>A
ENST00000466323.5:c.*83C>A	ENSP00000418264.1:n.*83C>A
ENST00000490775.5:n.677C>A
NM_000202.6:c.892C>A	NP_000193.1:p.Gln298Lys
NM_001166550.2:c.622C>A	NP_001160022.1:p.Gln208Lys
NM_006123.4:c.892C>A	NP_006114.1:p.Gln298Lys
NR_104128.1:n.1239C>A
NM_000202.7:c.892C>A	NP_000193.1:p.Gln298Lys
NM_001166550.3:c.622C>A	NP_001160022.1:p.Gln208Lys
NM_000202.8:c.892C>A MANE Select	NP_000193.1:p.Gln298Lys
NM_001166550.4:c.622C>A	NP_001160022.1:p.Gln208Lys
NM_006123.5:c.892C>A	NP_006114.1:p.Gln298Lys
NR_104128.2:n.1191C>A