Canonical Allele Identifier: CA414518147

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148564515A>T (hg19) ; chrX:g.149482984A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482984A>T , CM000685.2:g.149482984A>T	GRCh38
NC_000023.10:g.148564515A>T , CM000685.1:g.148564515A>T	GRCh37
NC_000023.9:g.148372420A>T	NCBI36
NG_011900.3:g.27351T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1415T>A MANE Select	ENSP00000339801.6:p.Ile472Asn
ENST00000651111.1:c.782T>A	ENSP00000498395.1:p.Ile261Asn
ENST00000340855.10:c.1415T>A	ENSP00000339801.6:p.Ile472Asn
ENST00000422081.6:c.782T>A	ENSP00000477056.1:p.Ile261Asn
NM_000202.6:c.1415T>A	NP_000193.1:p.Ile472Asn
NM_001166550.2:c.1145T>A	NP_001160022.1:p.Ile382Asn
NM_000202.7:c.1415T>A	NP_000193.1:p.Ile472Asn
NM_001166550.3:c.1145T>A	NP_001160022.1:p.Ile382Asn
NM_000202.8:c.1415T>A MANE Select	NP_000193.1:p.Ile472Asn
NM_001166550.4:c.1145T>A	NP_001160022.1:p.Ile382Asn