Canonical Allele Identifier: CA414518111

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148564500G>T (hg19) ; chrX:g.149482969G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482969G>T , CM000685.2:g.149482969G>T	GRCh38
NC_000023.10:g.148564500G>T , CM000685.1:g.148564500G>T	GRCh37
NC_000023.9:g.148372405G>T	NCBI36
NG_011900.3:g.27366C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1430C>A MANE Select	ENSP00000339801.6:p.Ser477Tyr
ENST00000651111.1:c.797C>A	ENSP00000498395.1:p.Ser266Tyr
ENST00000340855.10:c.1430C>A	ENSP00000339801.6:p.Ser477Tyr
ENST00000422081.6:c.797C>A	ENSP00000477056.1:p.Ser266Tyr
NM_000202.6:c.1430C>A	NP_000193.1:p.Ser477Tyr
NM_001166550.2:c.1160C>A	NP_001160022.1:p.Ser387Tyr
NM_000202.7:c.1430C>A	NP_000193.1:p.Ser477Tyr
NM_001166550.3:c.1160C>A	NP_001160022.1:p.Ser387Tyr
NM_000202.8:c.1430C>A MANE Select	NP_000193.1:p.Ser477Tyr
NM_001166550.4:c.1160C>A	NP_001160022.1:p.Ser387Tyr