Canonical Allele Identifier: CA519058254

Gene: IDS

Linked Data

• dbSNP Id: rs1557339503
• gnomAD v2: X-148579656-G-A
• gnomAD v4: X-149498125-G-A
• MyVariant Identifiers: chrX:g.148579656G>A (hg19) ; chrX:g.149498125G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498125G>A , CM000685.2:g.149498125G>A	GRCh38
NC_000023.10:g.148579656G>A , CM000685.1:g.148579656G>A	GRCh37
NC_000023.9:g.148387561G>A	NCBI36
NG_011900.3:g.12210C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.690C>T MANE Select	ENSP00000339801.6:p.Ile230=
ENST00000651111.1:c.57C>T	ENSP00000498395.1:p.Ile19=
ENST00000340855.10:c.690C>T	ENSP00000339801.6:p.Ile230=
ENST00000370441.8:c.690C>T	ENSP00000359470.4:p.Ile230=
ENST00000422081.6:c.57C>T	ENSP00000477056.1:p.Ile19=
ENST00000441880.1:n.114-11027C>T
ENST00000464251.5:c.616C>T	ENSP00000428980.1:n.616C>T
ENST00000466019.1:n.142C>T
ENST00000466323.5:c.690C>T	ENSP00000418264.1:p.Ile230=
ENST00000490775.5:n.475C>T
NM_000202.6:c.690C>T	NP_000193.1:p.Ile230=
NM_001166550.2:c.420C>T	NP_001160022.1:p.Ile140=
NM_006123.4:c.690C>T	NP_006114.1:p.Ile230=
NR_104128.1:n.907C>T
NM_000202.7:c.690C>T	NP_000193.1:p.Ile230=
NM_001166550.3:c.420C>T	NP_001160022.1:p.Ile140=
NM_000202.8:c.690C>T MANE Select	NP_000193.1:p.Ile230=
NM_001166550.4:c.420C>T	NP_001160022.1:p.Ile140=
NM_006123.5:c.690C>T	NP_006114.1:p.Ile230=
NR_104128.2:n.859C>T