Canonical Allele Identifier: CA519057673

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148571861T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490330T>G , CM000685.2:g.149490330T>G	GRCh38
NC_000023.10:g.148571861T>G , CM000685.1:g.148571861T>G	GRCh37
NC_000023.9:g.148379766T>G	NCBI36
NG_011900.3:g.20005A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.990A>C MANE Select	ENSP00000339801.6:p.Ala330=
ENST00000651111.1:c.357A>C	ENSP00000498395.1:p.Ala119=
ENST00000340855.10:c.990A>C	ENSP00000339801.6:p.Ala330=
ENST00000370441.8:c.990A>C	ENSP00000359470.4:p.Ala330=
ENST00000422081.6:c.357A>C	ENSP00000477056.1:p.Ala119=
ENST00000441880.1:n.114-3232A>C
ENST00000464251.5:c.916A>C	ENSP00000428980.1:n.916A>C
ENST00000466323.5:c.*181A>C	ENSP00000418264.1:n.*181A>C
ENST00000490775.5:n.775A>C
NM_000202.6:c.990A>C	NP_000193.1:p.Ala330=
NM_001166550.2:c.720A>C	NP_001160022.1:p.Ala240=
NM_006123.4:c.990A>C	NP_006114.1:p.Ala330=
NR_104128.1:n.1337A>C
NM_000202.7:c.990A>C	NP_000193.1:p.Ala330=
NM_001166550.3:c.720A>C	NP_001160022.1:p.Ala240=
NM_000202.8:c.990A>C MANE Select	NP_000193.1:p.Ala330=
NM_001166550.4:c.720A>C	NP_001160022.1:p.Ala240=
NM_006123.5:c.990A>C	NP_006114.1:p.Ala330=
NR_104128.2:n.1289A>C