Canonical Allele Identifier: CA355965968

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1004308G>A , CM000666.2:g.1004308G>A	GRCh38
NC_000004.11:g.998096G>A , CM000666.1:g.998096G>A	GRCh37
NC_000004.10:g.988096G>A	NCBI36
NG_008103.1:g.22312G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1877G>A MANE Select	NP_000194.2:p.Trp626Ter
ENST00000514224.2:c.1877G>A MANE Select	ENSP00000425081.2:p.Trp626Ter
NM_000203.4:c.1877G>A	NP_000194.2:p.Trp626Ter
NM_001363576.1:c.1481G>A	NP_001350505.1:p.Trp494Ter
NR_110313.1:n.1969G>A
ENST00000247933.8:c.1877G>A	ENSP00000247933.4:p.Trp626Ter
ENST00000247933.9:c.1877G>A	ENSP00000247933.4:p.Trp626Ter
ENST00000514224.1:c.1481G>A	ENSP00000425081.1:p.Trp494Ter
ENST00000514698.5:n.1988G>A
ENST00000652070.1:n.1933G>A
XM_006713882.2:c.1481G>A	XP_006713945.1:p.Trp494Ter
XM_011513459.1:c.1943G>A	XP_011511761.1:p.Trp648Ter
XM_011513460.1:c.1736G>A	XP_011511762.1:p.Trp579Ter
XM_011513461.1:c.1670G>A	XP_011511763.1:p.Trp557Ter
XM_011513461.2:c.1670G>A	XP_011511763.1:p.Trp557Ter
XM_011513462.1:c.1589G>A	XP_011511764.1:p.Trp530Ter
XM_011513463.1:c.1589G>A	XP_011511765.1:p.Trp530Ter
XM_017008163.1:c.917G>A	XP_016863652.1:p.Trp306Ter
XR_924947.1:n.2137G>A