Canonical Allele Identifier: CA414522496

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148579790C>G (hg19) ; chrX:g.149498259C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498259C>G , CM000685.2:g.149498259C>G	GRCh38
NC_000023.10:g.148579790C>G , CM000685.1:g.148579790C>G	GRCh37
NC_000023.9:g.148387695C>G	NCBI36
NG_011900.3:g.12076G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.556G>C MANE Select	ENSP00000339801.6:p.Val186Leu
ENST00000651111.1:c.-78G>C	ENSP00000498395.1:n.-78G>C
ENST00000340855.10:c.556G>C	ENSP00000339801.6:p.Val186Leu
ENST00000370441.8:c.556G>C	ENSP00000359470.4:p.Val186Leu
ENST00000422081.6:c.-78G>C	ENSP00000477056.1:n.-78G>C
ENST00000441880.1:n.114-11161G>C
ENST00000464251.5:c.482G>C	ENSP00000428980.1:n.482G>C
ENST00000466019.1:n.8G>C
ENST00000466323.5:c.556G>C	ENSP00000418264.1:p.Val186Leu
ENST00000490775.5:n.341G>C
ENST00000523759.5:n.670G>C
NM_000202.6:c.556G>C	NP_000193.1:p.Val186Leu
NM_001166550.2:c.286G>C	NP_001160022.1:p.Val96Leu
NM_006123.4:c.556G>C	NP_006114.1:p.Val186Leu
NR_104128.1:n.773G>C
NM_000202.7:c.556G>C	NP_000193.1:p.Val186Leu
NM_001166550.3:c.286G>C	NP_001160022.1:p.Val96Leu
NM_000202.8:c.556G>C MANE Select	NP_000193.1:p.Val186Leu
NM_001166550.4:c.286G>C	NP_001160022.1:p.Val96Leu
NM_006123.5:c.556G>C	NP_006114.1:p.Val186Leu
NR_104128.2:n.725G>C