Canonical Allele Identifier: CA414522292

Gene: IDS

Linked Data

• COSMIC: COSM1116649 ; COSM4871723 ; COSM4871724
• MyVariant Identifiers: chrX:g.148579713C>A (hg19) ; chrX:g.149498182C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498182C>A , CM000685.2:g.149498182C>A	GRCh38
NC_000023.10:g.148579713C>A , CM000685.1:g.148579713C>A	GRCh37
NC_000023.9:g.148387618C>A	NCBI36
NG_011900.3:g.12153G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.633G>T MANE Select	ENSP00000339801.6:p.Lys211Asn
ENST00000651111.1:c.-1G>T	ENSP00000498395.1:n.-1G>T
ENST00000340855.10:c.633G>T	ENSP00000339801.6:p.Lys211Asn
ENST00000370441.8:c.633G>T	ENSP00000359470.4:p.Lys211Asn
ENST00000422081.6:c.-1G>T	ENSP00000477056.1:n.-1G>T
ENST00000441880.1:n.114-11084G>T
ENST00000464251.5:c.559G>T	ENSP00000428980.1:n.559G>T
ENST00000466019.1:n.85G>T
ENST00000466323.5:c.633G>T	ENSP00000418264.1:p.Lys211Asn
ENST00000490775.5:n.418G>T
NM_000202.6:c.633G>T	NP_000193.1:p.Lys211Asn
NM_001166550.2:c.363G>T	NP_001160022.1:p.Lys121Asn
NM_006123.4:c.633G>T	NP_006114.1:p.Lys211Asn
NR_104128.1:n.850G>T
NM_000202.7:c.633G>T	NP_000193.1:p.Lys211Asn
NM_001166550.3:c.363G>T	NP_001160022.1:p.Lys121Asn
NM_000202.8:c.633G>T MANE Select	NP_000193.1:p.Lys211Asn
NM_001166550.4:c.363G>T	NP_001160022.1:p.Lys121Asn
NM_006123.5:c.633G>T	NP_006114.1:p.Lys211Asn
NR_104128.2:n.802G>T