Canonical Allele Identifier: CA2578013964

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1000787G>A , CM000666.2:g.1000787G>A	GRCh38
NC_000004.11:g.994575G>A , CM000666.1:g.994575G>A	GRCh37
NC_000004.10:g.984575G>A	NCBI36
NG_008103.1:g.18791G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.385+90G>A	ENSP00000247933.4:n.385+90G>A
ENST00000514224.2:c.385+90G>A MANE Select	ENSP00000425081.2:n.385+90G>A
ENST00000652070.1:n.441+90G>A
ENST00000247933.8:c.385+90G>A	ENSP00000247933.4:n.385+90G>A
ENST00000502910.5:c.244+90G>A	ENSP00000422952.1:n.244+90G>A
ENST00000504568.5:c.345+90G>A
ENST00000506561.5:n.394+90G>A
ENST00000508168.5:n.263+90G>A
ENST00000509948.5:c.178+90G>A	ENSP00000424227.1:n.178+90G>A
ENST00000514192.5:c.202+90G>A	ENSP00000423685.1:n.202+90G>A
ENST00000514224.1:c.-12+90G>A	ENSP00000425081.1:n.-12+90G>A
ENST00000514698.5:n.285+90G>A
NM_000203.4:c.385+90G>A	NP_000194.2:n.385+90G>A
NR_110313.1:n.473+90G>A
XM_006713882.2:c.-12+90G>A	XP_006713945.1:n.-12+90G>A
XM_011513459.1:c.244+90G>A	XP_011511761.1:n.244+90G>A
XM_011513460.1:c.244+90G>A	XP_011511762.1:n.244+90G>A
XM_011513461.1:c.178+90G>A	XP_011511763.1:n.178+90G>A
XM_011513462.1:c.3G>A	XP_011511764.1:p.Met1Ile
XM_011513463.1:c.3G>A	XP_011511765.1:p.Met1Ile
XR_924947.1:n.454+90G>A
NM_000203.5:c.385+90G>A MANE Select	NP_000194.2:n.385+90G>A
NM_001363576.1:c.-12+90G>A	NP_001350505.1:n.-12+90G>A
XM_011513461.2:c.178+90G>A	XP_011511763.1:n.178+90G>A
XM_017008163.1:c.-1082+90G>A	XP_016863652.1:n.-1082+90G>A