Canonical Allele Identifier: CA414518682

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148568465T>G (hg19) ; chrX:g.149486934T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149486934T>G , CM000685.2:g.149486934T>G	GRCh38
NC_000023.10:g.148568465T>G , CM000685.1:g.148568465T>G	GRCh37
NC_000023.9:g.148376370T>G	NCBI36
NG_011900.3:g.23401A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1171A>C MANE Select	ENSP00000339801.6:p.Met391Leu
ENST00000651111.1:c.538A>C	ENSP00000498395.1:p.Met180Leu
ENST00000340855.10:c.1171A>C	ENSP00000339801.6:p.Met391Leu
ENST00000422081.6:c.538A>C	ENSP00000477056.1:p.Met180Leu
ENST00000441880.1:n.278A>C
NM_000202.6:c.1171A>C	NP_000193.1:p.Met391Leu
NM_001166550.2:c.901A>C	NP_001160022.1:p.Met301Leu
NM_000202.7:c.1171A>C	NP_000193.1:p.Met391Leu
NM_001166550.3:c.901A>C	NP_001160022.1:p.Met301Leu
NM_000202.8:c.1171A>C MANE Select	NP_000193.1:p.Met391Leu
NM_001166550.4:c.901A>C	NP_001160022.1:p.Met301Leu