Canonical Allele Identifier: CA355964654

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003102T>A , CM000666.2:g.1003102T>A	GRCh38
NC_000004.11:g.996890T>A , CM000666.1:g.996890T>A	GRCh37
NC_000004.10:g.986890T>A	NCBI36
NG_008103.1:g.21106T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1469T>A MANE Select	NP_000194.2:p.Leu490Gln
ENST00000514224.2:c.1469T>A MANE Select	ENSP00000425081.2:p.Leu490Gln
NM_000203.4:c.1469T>A	NP_000194.2:p.Leu490Gln
NM_001363576.1:c.1073T>A	NP_001350505.1:p.Leu358Gln
NR_110313.1:n.1557T>A
ENST00000247933.8:c.1469T>A	ENSP00000247933.4:p.Leu490Gln
ENST00000247933.9:c.1469T>A	ENSP00000247933.4:p.Leu490Gln
ENST00000502829.1:n.271T>A
ENST00000514224.1:c.1073T>A	ENSP00000425081.1:p.Leu358Gln
ENST00000514698.5:n.1576T>A
ENST00000652070.1:n.1525T>A
XM_006713882.2:c.1073T>A	XP_006713945.1:p.Leu358Gln
XM_011513459.1:c.1535T>A	XP_011511761.1:p.Leu512Gln
XM_011513460.1:c.1328T>A	XP_011511762.1:p.Leu443Gln
XM_011513461.1:c.1262T>A	XP_011511763.1:p.Leu421Gln
XM_011513461.2:c.1262T>A	XP_011511763.1:p.Leu421Gln
XM_011513462.1:c.1181T>A	XP_011511764.1:p.Leu394Gln
XM_011513463.1:c.1181T>A	XP_011511765.1:p.Leu394Gln
XM_017008163.1:c.509T>A	XP_016863652.1:p.Leu170Gln
XR_924947.1:n.1538T>A