Canonical Allele Identifier: CA355965934

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1004289G>T , CM000666.2:g.1004289G>T	GRCh38
NC_000004.11:g.998077G>T , CM000666.1:g.998077G>T	GRCh37
NC_000004.10:g.988077G>T	NCBI36
NG_008103.1:g.22293G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1858G>T MANE Select	NP_000194.2:p.Val620Phe
ENST00000514224.2:c.1858G>T MANE Select	ENSP00000425081.2:p.Val620Phe
NM_000203.4:c.1858G>T	NP_000194.2:p.Val620Phe
NM_001363576.1:c.1462G>T	NP_001350505.1:p.Val488Phe
NR_110313.1:n.1950G>T
ENST00000247933.8:c.1858G>T	ENSP00000247933.4:p.Val620Phe
ENST00000247933.9:c.1858G>T	ENSP00000247933.4:p.Val620Phe
ENST00000514224.1:c.1462G>T	ENSP00000425081.1:p.Val488Phe
ENST00000514698.5:n.1969G>T
ENST00000652070.1:n.1914G>T
XM_006713882.2:c.1462G>T	XP_006713945.1:p.Val488Phe
XM_011513459.1:c.1924G>T	XP_011511761.1:p.Val642Phe
XM_011513460.1:c.1717G>T	XP_011511762.1:p.Val573Phe
XM_011513461.1:c.1651G>T	XP_011511763.1:p.Val551Phe
XM_011513461.2:c.1651G>T	XP_011511763.1:p.Val551Phe
XM_011513462.1:c.1570G>T	XP_011511764.1:p.Val524Phe
XM_011513463.1:c.1570G>T	XP_011511765.1:p.Val524Phe
XM_017008163.1:c.898G>T	XP_016863652.1:p.Val300Phe
XR_924947.1:n.2118G>T