Canonical Allele Identifier: CA355965360

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1004034C>T , CM000666.2:g.1004034C>T	GRCh38
NC_000004.11:g.997822C>T , CM000666.1:g.997822C>T	GRCh37
NC_000004.10:g.987822C>T	NCBI36
NG_008103.1:g.22038C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1750C>T MANE Select	NP_000194.2:p.Gln584Ter
ENST00000514224.2:c.1750C>T MANE Select	ENSP00000425081.2:p.Gln584Ter
NM_000203.4:c.1750C>T	NP_000194.2:p.Gln584Ter
NM_001363576.1:c.1354C>T	NP_001350505.1:p.Gln452Ter
NR_110313.1:n.1842C>T
ENST00000247933.8:c.1750C>T	ENSP00000247933.4:p.Gln584Ter
ENST00000247933.9:c.1750C>T	ENSP00000247933.4:p.Gln584Ter
ENST00000514224.1:c.1354C>T	ENSP00000425081.1:p.Gln452Ter
ENST00000514698.5:n.1861C>T
ENST00000652070.1:n.1806C>T
XM_006713882.2:c.1354C>T	XP_006713945.1:p.Gln452Ter
XM_011513459.1:c.1816C>T	XP_011511761.1:p.Gln606Ter
XM_011513460.1:c.1609C>T	XP_011511762.1:p.Gln537Ter
XM_011513461.1:c.1543C>T	XP_011511763.1:p.Gln515Ter
XM_011513461.2:c.1543C>T	XP_011511763.1:p.Gln515Ter
XM_011513462.1:c.1462C>T	XP_011511764.1:p.Gln488Ter
XM_011513463.1:c.1462C>T	XP_011511765.1:p.Gln488Ter
XM_017008163.1:c.790C>T	XP_016863652.1:p.Gln264Ter
XR_924947.1:n.2010C>T