Canonical Allele Identifier: CA2802479

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1004367G>C , CM000666.2:g.1004367G>C	GRCh38
NC_000004.11:g.998155G>C , CM000666.1:g.998155G>C	GRCh37
NC_000004.10:g.988155G>C	NCBI36
NG_008103.1:g.22371G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1936G>C MANE Select	NP_000194.2:p.Gly646Arg
ENST00000514224.2:c.1936G>C MANE Select	ENSP00000425081.2:p.Gly646Arg
NM_000203.4:c.1936G>C	NP_000194.2:p.Gly646Arg
NM_001363576.1:c.1540G>C	NP_001350505.1:p.Gly514Arg
NR_110313.1:n.2028G>C
ENST00000247933.8:c.1936G>C	ENSP00000247933.4:p.Gly646Arg
ENST00000247933.9:c.1936G>C	ENSP00000247933.4:p.Gly646Arg
ENST00000514224.1:c.1540G>C	ENSP00000425081.1:p.Gly514Arg
ENST00000514698.5:n.2047G>C
ENST00000652070.1:n.1992G>C
XM_006713882.2:c.1540G>C	XP_006713945.1:p.Gly514Arg
XM_011513459.1:c.2002G>C	XP_011511761.1:p.Gly668Arg
XM_011513460.1:c.1795G>C	XP_011511762.1:p.Gly599Arg
XM_011513461.1:c.1729G>C	XP_011511763.1:p.Gly577Arg
XM_011513461.2:c.1729G>C	XP_011511763.1:p.Gly577Arg
XM_011513462.1:c.1648G>C	XP_011511764.1:p.Gly550Arg
XM_011513463.1:c.1648G>C	XP_011511765.1:p.Gly550Arg
XM_017008163.1:c.976G>C	XP_016863652.1:p.Gly326Arg
XR_924947.1:n.2196G>C