Canonical Allele Identifier: CA2465004068

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483145A= , CM000685.2:g.149483145A=	GRCh38
NC_000023.10:g.148564676A= , CM000685.1:g.148564676A=	GRCh37
NC_000023.9:g.148372581A=	NCBI36
NG_011900.3:g.27190T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1254T= MANE Select	ENSP00000339801.6:p.Val418=
ENST00000651111.1:c.621T=	ENSP00000498395.1:p.Val207=
ENST00000340855.10:c.1254T=	ENSP00000339801.6:p.Val418=
ENST00000422081.6:c.621T=	ENSP00000477056.1:p.Val207=
ENST00000441880.1:n.361T=
NM_000202.6:c.1254T=	NP_000193.1:p.Val418=
NM_001166550.2:c.984T=	NP_001160022.1:p.Val328=
NM_000202.7:c.1254T=	NP_000193.1:p.Val418=
NM_001166550.3:c.984T=	NP_001160022.1:p.Val328=
NM_000202.8:c.1254T= MANE Select	NP_000193.1:p.Val418=
NM_001166550.4:c.984T=	NP_001160022.1:p.Val328=