Canonical Allele Identifier: CA1433069153

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002336G= , CM000666.2:g.1002336G=	GRCh38
NC_000004.11:g.996124G= , CM000666.1:g.996124G=	GRCh37
NC_000004.10:g.986124G=	NCBI36
NG_008103.1:g.20340G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1040G=	ENSP00000247933.4:p.Ser347=
ENST00000514224.2:c.1040G= MANE Select	ENSP00000425081.2:p.Ser347=
ENST00000652070.1:n.1096G=
ENST00000247933.8:c.1040G=	ENSP00000247933.4:p.Ser347=
ENST00000514224.1:c.644G=	ENSP00000425081.1:p.Ser215=
ENST00000514698.5:n.1147G=
NM_000203.4:c.1040G=	NP_000194.2:p.Ser347=
NR_110313.1:n.1128G=
XM_006713882.2:c.644G=	XP_006713945.1:p.Ser215=
XM_011513459.1:c.1106G=	XP_011511761.1:p.Ser369=
XM_011513460.1:c.899G=	XP_011511762.1:p.Ser300=
XM_011513461.1:c.833G=	XP_011511763.1:p.Ser278=
XM_011513462.1:c.752G=	XP_011511764.1:p.Ser251=
XM_011513463.1:c.752G=	XP_011511765.1:p.Ser251=
XR_924947.1:n.1109G=
NM_000203.5:c.1040G= MANE Select	NP_000194.2:p.Ser347=
NM_001363576.1:c.644G=	NP_001350505.1:p.Ser215=
XM_011513461.2:c.833G=	XP_011511763.1:p.Ser278=
XM_017008163.1:c.80G=	XP_016863652.1:p.Ser27=