Canonical Allele Identifier: CA2802098

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001982G>C , CM000666.2:g.1001982G>C	GRCh38
NC_000004.11:g.995770G>C , CM000666.1:g.995770G>C	GRCh37
NC_000004.10:g.985770G>C	NCBI36
NG_008103.1:g.19986G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.793G>C MANE Select	NP_000194.2:p.Gly265Arg
ENST00000514224.2:c.793G>C MANE Select	ENSP00000425081.2:p.Gly265Arg
NM_000203.4:c.793G>C	NP_000194.2:p.Gly265Arg
NM_001363576.1:c.397G>C	NP_001350505.1:p.Gly133Arg
NR_110313.1:n.881G>C
ENST00000247933.8:c.793G>C	ENSP00000247933.4:p.Gly265Arg
ENST00000247933.9:c.793G>C	ENSP00000247933.4:p.Gly265Arg
ENST00000502910.5:c.652G>C	ENSP00000422952.1:p.Gly218Arg
ENST00000514192.5:c.610G>C	ENSP00000423685.1:p.Gly204Arg
ENST00000514224.1:c.397G>C	ENSP00000425081.1:p.Gly133Arg
ENST00000514698.5:n.793G>C
ENST00000652070.1:n.849G>C
XM_006713882.2:c.397G>C	XP_006713945.1:p.Gly133Arg
XM_011513459.1:c.752G>C	XP_011511761.1:p.Gly251Ala
XM_011513460.1:c.652G>C	XP_011511762.1:p.Gly218Arg
XM_011513461.1:c.586G>C	XP_011511763.1:p.Gly196Arg
XM_011513461.2:c.586G>C	XP_011511763.1:p.Gly196Arg
XM_011513462.1:c.505G>C	XP_011511764.1:p.Gly169Arg
XM_011513463.1:c.505G>C	XP_011511765.1:p.Gly169Arg
XM_017008163.1:c.-168G>C	XP_016863652.1:n.-168G>C
XR_924947.1:n.862G>C