Canonical Allele Identifier: CA414518180

Gene: IDS

Linked Data

• dbSNP Id: rs948618232
• gnomAD v2: X-148564533-T-A
• gnomAD v4: X-149483002-T-A
• MyVariant Identifiers: chrX:g.148564533T>A (hg19) ; chrX:g.149483002T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483002T>A , CM000685.2:g.149483002T>A	GRCh38
NC_000023.10:g.148564533T>A , CM000685.1:g.148564533T>A	GRCh37
NC_000023.9:g.148372438T>A	NCBI36
NG_011900.3:g.27333A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1397A>T MANE Select	ENSP00000339801.6:p.Tyr466Phe
ENST00000651111.1:c.764A>T	ENSP00000498395.1:p.Tyr255Phe
ENST00000340855.10:c.1397A>T	ENSP00000339801.6:p.Tyr466Phe
ENST00000422081.6:c.764A>T	ENSP00000477056.1:p.Tyr255Phe
NM_000202.6:c.1397A>T	NP_000193.1:p.Tyr466Phe
NM_001166550.2:c.1127A>T	NP_001160022.1:p.Tyr376Phe
NM_000202.7:c.1397A>T	NP_000193.1:p.Tyr466Phe
NM_001166550.3:c.1127A>T	NP_001160022.1:p.Tyr376Phe
NM_000202.8:c.1397A>T MANE Select	NP_000193.1:p.Tyr466Phe
NM_001166550.4:c.1127A>T	NP_001160022.1:p.Tyr376Phe