Canonical Allele Identifier: CA414518075

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148564484T>A (hg19) ; chrX:g.149482953T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482953T>A , CM000685.2:g.149482953T>A	GRCh38
NC_000023.10:g.148564484T>A , CM000685.1:g.148564484T>A	GRCh37
NC_000023.9:g.148372389T>A	NCBI36
NG_011900.3:g.27382A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1446A>T MANE Select	ENSP00000339801.6:p.Leu482Phe
ENST00000651111.1:c.813A>T	ENSP00000498395.1:p.Leu271Phe
ENST00000340855.10:c.1446A>T	ENSP00000339801.6:p.Leu482Phe
ENST00000422081.6:c.813A>T	ENSP00000477056.1:p.Leu271Phe
NM_000202.6:c.1446A>T	NP_000193.1:p.Leu482Phe
NM_001166550.2:c.1176A>T	NP_001160022.1:p.Leu392Phe
NM_000202.7:c.1446A>T	NP_000193.1:p.Leu482Phe
NM_001166550.3:c.1176A>T	NP_001160022.1:p.Leu392Phe
NM_000202.8:c.1446A>T MANE Select	NP_000193.1:p.Leu482Phe
NM_001166550.4:c.1176A>T	NP_001160022.1:p.Leu392Phe