Canonical Allele Identifier: CA414518836

Gene: IDS

Linked Data

• ClinVar Variation Id: 437444
• ClinVar RCV Id: RCV000501829
• dbSNP Id: rs1557338131
• MyVariant Identifiers: chrX:g.148568537T>A (hg19) ; chrX:g.149487006T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149487006T>A , CM000685.2:g.149487006T>A	GRCh38
NC_000023.10:g.148568537T>A , CM000685.1:g.148568537T>A	GRCh37
NC_000023.9:g.148376442T>A	NCBI36
NG_011900.3:g.23329A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1099A>T MANE Select	ENSP00000339801.6:p.Thr367Ser
ENST00000651111.1:c.466A>T	ENSP00000498395.1:p.Thr156Ser
ENST00000340855.10:c.1099A>T	ENSP00000339801.6:p.Thr367Ser
ENST00000422081.6:c.466A>T	ENSP00000477056.1:p.Thr156Ser
ENST00000441880.1:n.206A>T
NM_000202.6:c.1099A>T	NP_000193.1:p.Thr367Ser
NM_001166550.2:c.829A>T	NP_001160022.1:p.Thr277Ser
NM_000202.7:c.1099A>T	NP_000193.1:p.Thr367Ser
NM_001166550.3:c.829A>T	NP_001160022.1:p.Thr277Ser
NM_000202.8:c.1099A>T MANE Select	NP_000193.1:p.Thr367Ser
NM_001166550.4:c.829A>T	NP_001160022.1:p.Thr277Ser