Canonical Allele Identifier: CA414520223

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148571916C>A (hg19) ; chrX:g.149490385C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490385C>A , CM000685.2:g.149490385C>A	GRCh38
NC_000023.10:g.148571916C>A , CM000685.1:g.148571916C>A	GRCh37
NC_000023.9:g.148379821C>A	NCBI36
NG_011900.3:g.19950G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.935G>T MANE Select	ENSP00000339801.6:p.Gly312Val
ENST00000651111.1:c.302G>T	ENSP00000498395.1:p.Gly101Val
ENST00000340855.10:c.935G>T	ENSP00000339801.6:p.Gly312Val
ENST00000370441.8:c.935G>T	ENSP00000359470.4:p.Gly312Val
ENST00000422081.6:c.302G>T	ENSP00000477056.1:p.Gly101Val
ENST00000441880.1:n.114-3287G>T
ENST00000464251.5:c.861G>T	ENSP00000428980.1:n.861G>T
ENST00000466323.5:c.*126G>T	ENSP00000418264.1:n.*126G>T
ENST00000490775.5:n.720G>T
NM_000202.6:c.935G>T	NP_000193.1:p.Gly312Val
NM_001166550.2:c.665G>T	NP_001160022.1:p.Gly222Val
NM_006123.4:c.935G>T	NP_006114.1:p.Gly312Val
NR_104128.1:n.1282G>T
NM_000202.7:c.935G>T	NP_000193.1:p.Gly312Val
NM_001166550.3:c.665G>T	NP_001160022.1:p.Gly222Val
NM_000202.8:c.935G>T MANE Select	NP_000193.1:p.Gly312Val
NM_001166550.4:c.665G>T	NP_001160022.1:p.Gly222Val
NM_006123.5:c.935G>T	NP_006114.1:p.Gly312Val
NR_104128.2:n.1234G>T