Canonical Allele Identifier: CA414518922

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148568579C>G (hg19) ; chrX:g.149487048C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149487048C>G , CM000685.2:g.149487048C>G	GRCh38
NC_000023.10:g.148568579C>G , CM000685.1:g.148568579C>G	GRCh37
NC_000023.9:g.148376484C>G	NCBI36
NG_011900.3:g.23287G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1057G>C MANE Select	ENSP00000339801.6:p.Val353Leu
ENST00000651111.1:c.424G>C	ENSP00000498395.1:p.Val142Leu
ENST00000340855.10:c.1057G>C	ENSP00000339801.6:p.Val353Leu
ENST00000422081.6:c.424G>C	ENSP00000477056.1:p.Val142Leu
ENST00000441880.1:n.164G>C
NM_000202.6:c.1057G>C	NP_000193.1:p.Val353Leu
NM_001166550.2:c.787G>C	NP_001160022.1:p.Val263Leu
NM_000202.7:c.1057G>C	NP_000193.1:p.Val353Leu
NM_001166550.3:c.787G>C	NP_001160022.1:p.Val263Leu
NM_000202.8:c.1057G>C MANE Select	NP_000193.1:p.Val353Leu
NM_001166550.4:c.787G>C	NP_001160022.1:p.Val263Leu