Canonical Allele Identifier: CA355961174

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1000674T>C , CM000666.2:g.1000674T>C	GRCh38
NC_000004.11:g.994462T>C , CM000666.1:g.994462T>C	GRCh37
NC_000004.10:g.984462T>C	NCBI36
NG_008103.1:g.18678T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.362T>C MANE Select	NP_000194.2:p.Leu121Pro
ENST00000514224.2:c.362T>C MANE Select	ENSP00000425081.2:p.Leu121Pro
NM_000203.4:c.362T>C	NP_000194.2:p.Leu121Pro
NM_001363576.1:c.-35T>C	NP_001350505.1:n.-35T>C
NR_110313.1:n.450T>C
ENST00000247933.8:c.362T>C	ENSP00000247933.4:p.Leu121Pro
ENST00000247933.9:c.362T>C	ENSP00000247933.4:p.Leu121Pro
ENST00000502910.5:c.221T>C	ENSP00000422952.1:p.Leu74Pro
ENST00000504568.5:c.322T>C
ENST00000506561.5:n.371T>C
ENST00000508168.5:n.240T>C
ENST00000509948.5:c.155T>C	ENSP00000424227.1:p.Leu52Pro
ENST00000514192.5:c.179T>C	ENSP00000423685.1:p.Leu60Pro
ENST00000514224.1:c.-35T>C	ENSP00000425081.1:n.-35T>C
ENST00000514698.5:n.262T>C
ENST00000652070.1:n.418T>C
XM_006713882.2:c.-35T>C	XP_006713945.1:n.-35T>C
XM_011513459.1:c.221T>C	XP_011511761.1:p.Leu74Pro
XM_011513460.1:c.221T>C	XP_011511762.1:p.Leu74Pro
XM_011513461.1:c.155T>C	XP_011511763.1:p.Leu52Pro
XM_011513461.2:c.155T>C	XP_011511763.1:p.Leu52Pro
XM_011513462.1:c.-111T>C	XP_011511764.1:n.-111T>C
XM_011513463.1:c.-111T>C	XP_011511765.1:n.-111T>C
XM_017008163.1:c.-1105T>C	XP_016863652.1:n.-1105T>C
XR_924947.1:n.431T>C