Canonical Allele Identifier: CA414527820

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148585797C>G (hg19) ; chrX:g.149504267C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149504267C>G , CM000685.2:g.149504267C>G	GRCh38
NC_000023.10:g.148585797C>G , CM000685.1:g.148585797C>G	GRCh37
NC_000023.9:g.148393701C>G	NCBI36
NG_011900.3:g.6068G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.130G>C MANE Select	ENSP00000339801.6:p.Val44Leu
ENST00000651111.1:c.-215-3230G>C	ENSP00000498395.1:n.-215-3230G>C
ENST00000340855.10:c.130G>C	ENSP00000339801.6:p.Val44Leu
ENST00000370441.8:c.130G>C	ENSP00000359470.4:p.Val44Leu
ENST00000422081.6:c.-215-3230G>C	ENSP00000477056.1:n.-215-3230G>C
ENST00000427113.2:n.770-2044G>C
ENST00000428056.6:c.130G>C	ENSP00000390241.2:p.Val44Leu
ENST00000441880.1:n.114-17169G>C
ENST00000466323.5:c.130G>C	ENSP00000418264.1:p.Val44Leu
ENST00000521702.1:c.130G>C	ENSP00000429745.1:p.Val44Leu
ENST00000523759.5:n.533-3230G>C
NM_000202.6:c.130G>C	NP_000193.1:p.Val44Leu
NM_001166550.2:c.-97G>C	NP_001160022.1:n.-97G>C
NM_006123.4:c.130G>C	NP_006114.1:p.Val44Leu
NR_104128.1:n.347G>C
NM_000202.7:c.130G>C	NP_000193.1:p.Val44Leu
NM_001166550.3:c.-97G>C	NP_001160022.1:n.-97G>C
NM_000202.8:c.130G>C MANE Select	NP_000193.1:p.Val44Leu
NM_001166550.4:c.-97G>C	NP_001160022.1:n.-97G>C
NM_006123.5:c.130G>C	NP_006114.1:p.Val44Leu
NR_104128.2:n.299G>C