Canonical Allele Identifier: CA1139658407

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003482T>C , CM000666.2:g.1003482T>C	GRCh38
NC_000004.11:g.997270T>C , CM000666.1:g.997270T>C	GRCh37
NC_000004.10:g.987270T>C	NCBI36
NG_008103.1:g.21486T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1650+12T>C MANE Select	NP_000194.2:n.1650+12T>C
ENST00000514224.2:c.1650+12T>C MANE Select	ENSP00000425081.2:n.1650+12T>C
NM_000203.4:c.1650+12T>C	NP_000194.2:n.1650+12T>C
NM_001363576.1:c.1254+12T>C	NP_001350505.1:n.1254+12T>C
NR_110313.1:n.1738+12T>C
ENST00000247933.8:c.1650+12T>C	ENSP00000247933.4:n.1650+12T>C
ENST00000247933.9:c.1650+12T>C	ENSP00000247933.4:n.1650+12T>C
ENST00000514224.1:c.1254+12T>C	ENSP00000425081.1:n.1254+12T>C
ENST00000514417.1:n.42+12T>C
ENST00000514698.5:n.1757+12T>C
ENST00000652070.1:n.1706+12T>C
XM_006713882.2:c.1254+12T>C	XP_006713945.1:n.1254+12T>C
XM_011513459.1:c.1716+12T>C	XP_011511761.1:n.1716+12T>C
XM_011513460.1:c.1509+12T>C	XP_011511762.1:n.1509+12T>C
XM_011513461.1:c.1443+12T>C	XP_011511763.1:n.1443+12T>C
XM_011513461.2:c.1443+12T>C	XP_011511763.1:n.1443+12T>C
XM_011513462.1:c.1362+12T>C	XP_011511764.1:n.1362+12T>C
XM_011513463.1:c.1362+12T>C	XP_011511765.1:n.1362+12T>C
XM_017008163.1:c.690+12T>C	XP_016863652.1:n.690+12T>C
XR_924947.1:n.1906+12T>C