Canonical Allele Identifier: CA2802412

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1004084G>A , CM000666.2:g.1004084G>A	GRCh38
NC_000004.11:g.997872G>A , CM000666.1:g.997872G>A	GRCh37
NC_000004.10:g.987872G>A	NCBI36
NG_008103.1:g.22088G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1800G>A MANE Select	NP_000194.2:p.Ser600=
ENST00000514224.2:c.1800G>A MANE Select	ENSP00000425081.2:p.Ser600=
NM_000203.4:c.1800G>A	NP_000194.2:p.Ser600=
NM_001363576.1:c.1404G>A	NP_001350505.1:p.Ser468=
NR_110313.1:n.1892G>A
ENST00000247933.8:c.1800G>A	ENSP00000247933.4:p.Ser600=
ENST00000247933.9:c.1800G>A	ENSP00000247933.4:p.Ser600=
ENST00000514224.1:c.1404G>A	ENSP00000425081.1:p.Ser468=
ENST00000514698.5:n.1911G>A
ENST00000652070.1:n.1856G>A
XM_006713882.2:c.1404G>A	XP_006713945.1:p.Ser468=
XM_011513459.1:c.1866G>A	XP_011511761.1:p.Ser622=
XM_011513460.1:c.1659G>A	XP_011511762.1:p.Ser553=
XM_011513461.1:c.1593G>A	XP_011511763.1:p.Ser531=
XM_011513461.2:c.1593G>A	XP_011511763.1:p.Ser531=
XM_011513462.1:c.1512G>A	XP_011511764.1:p.Ser504=
XM_011513463.1:c.1512G>A	XP_011511765.1:p.Ser504=
XM_017008163.1:c.840G>A	XP_016863652.1:p.Ser280=
XR_924947.1:n.2060G>A