Canonical Allele Identifier: CA2465010880

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503426G= , CM000685.2:g.149503426G=	GRCh38
NC_000023.10:g.148584956G= , CM000685.1:g.148584956G=	GRCh37
NC_000023.9:g.148392861G=	NCBI36
NG_011900.3:g.6909C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.304C= MANE Select	ENSP00000339801.6:p.Leu102=
ENST00000651111.1:c.-215-2389C=	ENSP00000498395.1:n.-215-2389C=
ENST00000340855.10:c.304C=	ENSP00000339801.6:p.Leu102=
ENST00000370441.8:c.304C=	ENSP00000359470.4:p.Leu102=
ENST00000422081.6:c.-215-2389C=	ENSP00000477056.1:n.-215-2389C=
ENST00000427113.2:n.770-1203C=
ENST00000428056.6:c.304C=	ENSP00000390241.2:p.Leu102=
ENST00000441880.1:n.114-16328C=
ENST00000464251.5:c.127C=	ENSP00000428980.1:p.Leu43=
ENST00000466323.5:c.304C=	ENSP00000418264.1:p.Leu102=
ENST00000523759.5:n.533-2389C=
NM_000202.6:c.304C=	NP_000193.1:p.Leu102=
NM_001166550.2:c.34C=	NP_001160022.1:p.Leu12=
NM_006123.4:c.304C=	NP_006114.1:p.Leu102=
NR_104128.1:n.521C=
NM_000202.7:c.304C=	NP_000193.1:p.Leu102=
NM_001166550.3:c.34C=	NP_001160022.1:p.Leu12=
NM_000202.8:c.304C= MANE Select	NP_000193.1:p.Leu102=
NM_001166550.4:c.34C=	NP_001160022.1:p.Leu12=
NM_006123.5:c.304C=	NP_006114.1:p.Leu102=
NR_104128.2:n.473C=