Canonical Allele Identifier: CA331784

Gene: IDS

Linked Data

• ClinVar Variation Id: 92622
• ClinVar RCV Id: RCV000078368 ; RCV000205107 ; RCV000587097 ; RCV002311549
• dbSNP Id: rs61736892
• ExAC: X:148579705 G / A
• gnomAD v2: X-148579705-G-A
• gnomAD v3: X-149498174-G-A
• gnomAD v4: X-149498174-G-A
• MyVariant Identifiers: chrX:g.148579705G>A (hg19) ; chrX:g.149498174G>A (hg38)
• PubMed: PMID:21639919

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498174G>A , CM000685.2:g.149498174G>A	GRCh38
NC_000023.10:g.148579705G>A , CM000685.1:g.148579705G>A	GRCh37
NC_000023.9:g.148387610G>A	NCBI36
NG_011900.3:g.12161C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.641C>T MANE Select	ENSP00000339801.6:p.Thr214Met
ENST00000651111.1:c.8C>T	ENSP00000498395.1:p.Thr3Met
ENST00000340855.10:c.641C>T	ENSP00000339801.6:p.Thr214Met
ENST00000370441.8:c.641C>T	ENSP00000359470.4:p.Thr214Met
ENST00000422081.6:c.8C>T	ENSP00000477056.1:p.Thr3Met
ENST00000441880.1:n.114-11076C>T
ENST00000464251.5:c.567C>T	ENSP00000428980.1:n.567C>T
ENST00000466019.1:n.93C>T
ENST00000466323.5:c.641C>T	ENSP00000418264.1:p.Thr214Met
ENST00000490775.5:n.426C>T
NM_000202.6:c.641C>T	NP_000193.1:p.Thr214Met
NM_001166550.2:c.371C>T	NP_001160022.1:p.Thr124Met
NM_006123.4:c.641C>T	NP_006114.1:p.Thr214Met
NR_104128.1:n.858C>T
NM_000202.7:c.641C>T	NP_000193.1:p.Thr214Met
NM_001166550.3:c.371C>T	NP_001160022.1:p.Thr124Met
NM_000202.8:c.641C>T MANE Select	NP_000193.1:p.Thr214Met
NM_001166550.4:c.371C>T	NP_001160022.1:p.Thr124Met
NM_006123.5:c.641C>T	NP_006114.1:p.Thr214Met
NR_104128.2:n.810C>T