Canonical Allele Identifier: CA1433070288

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002792C= , CM000666.2:g.1002792C=	GRCh38
NC_000004.11:g.996580C= , CM000666.1:g.996580C=	GRCh37
NC_000004.10:g.986580C=	NCBI36
NG_008103.1:g.20796C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1250C=	ENSP00000247933.4:p.Thr417=
ENST00000514224.2:c.1250C= MANE Select	ENSP00000425081.2:p.Thr417=
ENST00000652070.1:n.1306C=
ENST00000247933.8:c.1250C=	ENSP00000247933.4:p.Thr417=
ENST00000502829.1:n.52C=
ENST00000514224.1:c.854C=	ENSP00000425081.1:p.Thr285=
ENST00000514698.5:n.1357C=
NM_000203.4:c.1250C=	NP_000194.2:p.Thr417=
NR_110313.1:n.1338C=
XM_006713882.2:c.854C=	XP_006713945.1:p.Thr285=
XM_011513459.1:c.1316C=	XP_011511761.1:p.Thr439=
XM_011513460.1:c.1109C=	XP_011511762.1:p.Thr370=
XM_011513461.1:c.1043C=	XP_011511763.1:p.Thr348=
XM_011513462.1:c.962C=	XP_011511764.1:p.Thr321=
XM_011513463.1:c.962C=	XP_011511765.1:p.Thr321=
XR_924947.1:n.1319C=
NM_000203.5:c.1250C= MANE Select	NP_000194.2:p.Thr417=
NM_001363576.1:c.854C=	NP_001350505.1:p.Thr285=
XM_011513461.2:c.1043C=	XP_011511763.1:p.Thr348=
XM_017008163.1:c.290C=	XP_016863652.1:p.Thr97=