Canonical Allele Identifier: CA414517876

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148564395G>A (hg19) ; chrX:g.149482864G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482864G>A , CM000685.2:g.149482864G>A	GRCh38
NC_000023.10:g.148564395G>A , CM000685.1:g.148564395G>A	GRCh37
NC_000023.9:g.148372300G>A	NCBI36
NG_011900.3:g.27471C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1535C>T MANE Select	ENSP00000339801.6:p.Ala512Val
ENST00000651111.1:c.902C>T	ENSP00000498395.1:p.Ala301Val
ENST00000340855.10:c.1535C>T	ENSP00000339801.6:p.Ala512Val
ENST00000422081.6:c.902C>T	ENSP00000477056.1:p.Ala301Val
NM_000202.6:c.1535C>T	NP_000193.1:p.Ala512Val
NM_001166550.2:c.1265C>T	NP_001160022.1:p.Ala422Val
NM_000202.7:c.1535C>T	NP_000193.1:p.Ala512Val
NM_001166550.3:c.1265C>T	NP_001160022.1:p.Ala422Val
NM_000202.8:c.1535C>T MANE Select	NP_000193.1:p.Ala512Val
NM_001166550.4:c.1265C>T	NP_001160022.1:p.Ala422Val