Canonical Allele Identifier: CA2465003957

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482868G= , CM000685.2:g.149482868G=	GRCh38
NC_000023.10:g.148564399G= , CM000685.1:g.148564399G=	GRCh37
NC_000023.9:g.148372304G=	NCBI36
NG_011900.3:g.27467C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1531C= MANE Select	ENSP00000339801.6:p.Leu511=
ENST00000651111.1:c.898C=	ENSP00000498395.1:p.Leu300=
ENST00000340855.10:c.1531C=	ENSP00000339801.6:p.Leu511=
ENST00000422081.6:c.898C=	ENSP00000477056.1:p.Leu300=
NM_000202.6:c.1531C=	NP_000193.1:p.Leu511=
NM_001166550.2:c.1261C=	NP_001160022.1:p.Leu421=
NM_000202.7:c.1531C=	NP_000193.1:p.Leu511=
NM_001166550.3:c.1261C=	NP_001160022.1:p.Leu421=
NM_000202.8:c.1531C= MANE Select	NP_000193.1:p.Leu511=
NM_001166550.4:c.1261C=	NP_001160022.1:p.Leu421=