Canonical Allele Identifier: CA91171957

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1004113G>C , CM000666.2:g.1004113G>C	GRCh38
NC_000004.11:g.997901G>C , CM000666.1:g.997901G>C	GRCh37
NC_000004.10:g.987901G>C	NCBI36
NG_008103.1:g.22117G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1828+1G>C MANE Select	NP_000194.2:n.1828+1G>C
ENST00000514224.2:c.1828+1G>C MANE Select	ENSP00000425081.2:n.1828+1G>C
NM_000203.4:c.1828+1G>C	NP_000194.2:n.1828+1G>C
NM_001363576.1:c.1432+1G>C	NP_001350505.1:n.1432+1G>C
NR_110313.1:n.1920+1G>C
ENST00000247933.8:c.1828+1G>C	ENSP00000247933.4:n.1828+1G>C
ENST00000247933.9:c.1828+1G>C	ENSP00000247933.4:n.1828+1G>C
ENST00000514224.1:c.1432+1G>C	ENSP00000425081.1:n.1432+1G>C
ENST00000514698.5:n.1939+1G>C
ENST00000652070.1:n.1884+1G>C
XM_006713882.2:c.1432+1G>C	XP_006713945.1:n.1432+1G>C
XM_011513459.1:c.1894+1G>C	XP_011511761.1:n.1894+1G>C
XM_011513460.1:c.1687+1G>C	XP_011511762.1:n.1687+1G>C
XM_011513461.1:c.1621+1G>C	XP_011511763.1:n.1621+1G>C
XM_011513461.2:c.1621+1G>C	XP_011511763.1:n.1621+1G>C
XM_011513462.1:c.1540+1G>C	XP_011511764.1:n.1540+1G>C
XM_011513463.1:c.1540+1G>C	XP_011511765.1:n.1540+1G>C
XM_017008163.1:c.868+1G>C	XP_016863652.1:n.868+1G>C
XR_924947.1:n.2088+1G>C