Canonical Allele Identifier: CA2465006778

Gene: IDS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490370G= , CM000685.2:g.149490370G=	GRCh38
NC_000023.10:g.148571901G= , CM000685.1:g.148571901G=	GRCh37
NC_000023.9:g.148379806G=	NCBI36
NG_011900.3:g.19965C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.950C= MANE Select	ENSP00000339801.6:p.Ala317=
ENST00000651111.1:c.317C=	ENSP00000498395.1:p.Ala106=
ENST00000340855.10:c.950C=	ENSP00000339801.6:p.Ala317=
ENST00000370441.8:c.950C=	ENSP00000359470.4:p.Ala317=
ENST00000422081.6:c.317C=	ENSP00000477056.1:p.Ala106=
ENST00000441880.1:n.114-3272C=
ENST00000464251.5:c.876C=	ENSP00000428980.1:n.876C=
ENST00000466323.5:c.*141C=	ENSP00000418264.1:n.*141C=
ENST00000490775.5:n.735C=
NM_000202.6:c.950C=	NP_000193.1:p.Ala317=
NM_001166550.2:c.680C=	NP_001160022.1:p.Ala227=
NM_006123.4:c.950C=	NP_006114.1:p.Ala317=
NR_104128.1:n.1297C=
NM_000202.7:c.950C=	NP_000193.1:p.Ala317=
NM_001166550.3:c.680C=	NP_001160022.1:p.Ala227=
NM_000202.8:c.950C= MANE Select	NP_000193.1:p.Ala317=
NM_001166550.4:c.680C=	NP_001160022.1:p.Ala227=
NM_006123.5:c.950C=	NP_006114.1:p.Ala317=
NR_104128.2:n.1249C=