Canonical Allele Identifier: CA355961530

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1000953A>T , CM000666.2:g.1000953A>T	GRCh38
NC_000004.11:g.994741A>T , CM000666.1:g.994741A>T	GRCh37
NC_000004.10:g.984741A>T	NCBI36
NG_008103.1:g.18957A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.457A>T MANE Select	NP_000194.2:p.Lys153Ter
ENST00000514224.2:c.457A>T MANE Select	ENSP00000425081.2:p.Lys153Ter
NM_000203.4:c.457A>T	NP_000194.2:p.Lys153Ter
NM_001363576.1:c.61A>T	NP_001350505.1:p.Lys21Ter
NR_110313.1:n.545A>T
ENST00000247933.8:c.457A>T	ENSP00000247933.4:p.Lys153Ter
ENST00000247933.9:c.457A>T	ENSP00000247933.4:p.Lys153Ter
ENST00000502910.5:c.316A>T	ENSP00000422952.1:p.Lys106Ter
ENST00000504568.5:c.417A>T
ENST00000506561.5:n.466A>T
ENST00000508168.5:n.335A>T
ENST00000509948.5:c.250A>T	ENSP00000424227.1:p.Lys84Ter
ENST00000514192.5:c.274A>T	ENSP00000423685.1:p.Lys92Ter
ENST00000514224.1:c.61A>T	ENSP00000425081.1:p.Lys21Ter
ENST00000514698.5:n.357A>T
ENST00000652070.1:n.513A>T
XM_006713882.2:c.61A>T	XP_006713945.1:p.Lys21Ter
XM_011513459.1:c.316A>T	XP_011511761.1:p.Lys106Ter
XM_011513460.1:c.316A>T	XP_011511762.1:p.Lys106Ter
XM_011513461.1:c.250A>T	XP_011511763.1:p.Lys84Ter
XM_011513461.2:c.250A>T	XP_011511763.1:p.Lys84Ter
XM_011513462.1:c.169A>T	XP_011511764.1:p.Lys57Ter
XM_011513463.1:c.169A>T	XP_011511765.1:p.Lys57Ter
XM_017008163.1:c.-1010A>T	XP_016863652.1:n.-1010A>T
XR_924947.1:n.526A>T