Canonical Allele Identifier: CA2465009241

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498228A= , CM000685.2:g.149498228A=	GRCh38
NC_000023.10:g.148579759A= , CM000685.1:g.148579759A=	GRCh37
NC_000023.9:g.148387664A=	NCBI36
NG_011900.3:g.12107T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.587T= MANE Select	ENSP00000339801.6:p.Leu196=
ENST00000651111.1:c.-47T=	ENSP00000498395.1:n.-47T=
ENST00000340855.10:c.587T=	ENSP00000339801.6:p.Leu196=
ENST00000370441.8:c.587T=	ENSP00000359470.4:p.Leu196=
ENST00000422081.6:c.-47T=	ENSP00000477056.1:n.-47T=
ENST00000441880.1:n.114-11130T=
ENST00000464251.5:c.513T=	ENSP00000428980.1:n.513T=
ENST00000466019.1:n.39T=
ENST00000466323.5:c.587T=	ENSP00000418264.1:p.Leu196=
ENST00000490775.5:n.372T=
ENST00000523759.5:n.701T=
NM_000202.6:c.587T=	NP_000193.1:p.Leu196=
NM_001166550.2:c.317T=	NP_001160022.1:p.Leu106=
NM_006123.4:c.587T=	NP_006114.1:p.Leu196=
NR_104128.1:n.804T=
NM_000202.7:c.587T=	NP_000193.1:p.Leu196=
NM_001166550.3:c.317T=	NP_001160022.1:p.Leu106=
NM_000202.8:c.587T= MANE Select	NP_000193.1:p.Leu196=
NM_001166550.4:c.317T=	NP_001160022.1:p.Leu106=
NM_006123.5:c.587T=	NP_006114.1:p.Leu196=
NR_104128.2:n.756T=