Canonical Allele Identifier: CA438057522

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002089G>C , CM000666.2:g.1002089G>C	GRCh38
NC_000004.11:g.995877G>C , CM000666.1:g.995877G>C	GRCh37
NC_000004.10:g.985877G>C	NCBI36
NG_008103.1:g.20093G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.900G>C MANE Select	NP_000194.2:p.Ala300=
ENST00000514224.2:c.900G>C MANE Select	ENSP00000425081.2:p.Ala300=
NM_000203.4:c.900G>C	NP_000194.2:p.Ala300=
NM_001363576.1:c.504G>C	NP_001350505.1:p.Ala168=
NR_110313.1:n.988G>C
ENST00000247933.8:c.900G>C	ENSP00000247933.4:p.Ala300=
ENST00000247933.9:c.900G>C	ENSP00000247933.4:p.Ala300=
ENST00000514224.1:c.504G>C	ENSP00000425081.1:p.Ala168=
ENST00000514698.5:n.900G>C
ENST00000652070.1:n.956G>C
XM_006713882.2:c.504G>C	XP_006713945.1:p.Ala168=
XM_011513459.1:c.859G>C	XP_011511761.1:p.Gly287Arg
XM_011513460.1:c.759G>C	XP_011511762.1:p.Ala253=
XM_011513461.1:c.693G>C	XP_011511763.1:p.Ala231=
XM_011513461.2:c.693G>C	XP_011511763.1:p.Ala231=
XM_011513462.1:c.612G>C	XP_011511764.1:p.Ala204=
XM_011513463.1:c.612G>C	XP_011511765.1:p.Ala204=
XM_017008163.1:c.-61G>C	XP_016863652.1:n.-61G>C
XR_924947.1:n.969G>C