Canonical Allele Identifier: CA355965989

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1004320G>A , CM000666.2:g.1004320G>A	GRCh38
NC_000004.11:g.998108G>A , CM000666.1:g.998108G>A	GRCh37
NC_000004.10:g.988108G>A	NCBI36
NG_008103.1:g.22324G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1889G>A MANE Select	NP_000194.2:p.Gly630Asp
ENST00000514224.2:c.1889G>A MANE Select	ENSP00000425081.2:p.Gly630Asp
NM_000203.4:c.1889G>A	NP_000194.2:p.Gly630Asp
NM_001363576.1:c.1493G>A	NP_001350505.1:p.Gly498Asp
NR_110313.1:n.1981G>A
ENST00000247933.8:c.1889G>A	ENSP00000247933.4:p.Gly630Asp
ENST00000247933.9:c.1889G>A	ENSP00000247933.4:p.Gly630Asp
ENST00000514224.1:c.1493G>A	ENSP00000425081.1:p.Gly498Asp
ENST00000514698.5:n.2000G>A
ENST00000652070.1:n.1945G>A
XM_006713882.2:c.1493G>A	XP_006713945.1:p.Gly498Asp
XM_011513459.1:c.1955G>A	XP_011511761.1:p.Gly652Asp
XM_011513460.1:c.1748G>A	XP_011511762.1:p.Gly583Asp
XM_011513461.1:c.1682G>A	XP_011511763.1:p.Gly561Asp
XM_011513461.2:c.1682G>A	XP_011511763.1:p.Gly561Asp
XM_011513462.1:c.1601G>A	XP_011511764.1:p.Gly534Asp
XM_011513463.1:c.1601G>A	XP_011511765.1:p.Gly534Asp
XM_017008163.1:c.929G>A	XP_016863652.1:p.Gly310Asp
XR_924947.1:n.2149G>A