Canonical Allele Identifier: CA355961946

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995499G>C (hg19) ; chr4:g.1001711G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001711G>C , CM000666.2:g.1001711G>C	GRCh38
NC_000004.11:g.995499G>C , CM000666.1:g.995499G>C	GRCh37
NC_000004.10:g.985499G>C	NCBI36
NG_008103.1:g.19715G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.622G>C	ENSP00000247933.4:p.Gly208Arg
ENST00000514224.2:c.622G>C MANE Select	ENSP00000425081.2:p.Gly208Arg
ENST00000652070.1:n.678G>C
ENST00000247933.8:c.622G>C	ENSP00000247933.4:p.Gly208Arg
ENST00000502910.5:c.481G>C	ENSP00000422952.1:p.Gly161Arg
ENST00000504568.5:c.582G>C
ENST00000509948.5:c.415G>C	ENSP00000424227.1:p.Gly139Arg
ENST00000514192.5:c.439G>C	ENSP00000423685.1:p.Gly147Arg
ENST00000514224.1:c.226G>C	ENSP00000425081.1:p.Gly76Arg
ENST00000514698.5:n.522G>C
NM_000203.4:c.622G>C	NP_000194.2:p.Gly208Arg
NR_110313.1:n.710G>C
XM_006713882.2:c.226G>C	XP_006713945.1:p.Gly76Arg
XM_011513459.1:c.481G>C	XP_011511761.1:p.Gly161Arg
XM_011513460.1:c.481G>C	XP_011511762.1:p.Gly161Arg
XM_011513461.1:c.415G>C	XP_011511763.1:p.Gly139Arg
XM_011513462.1:c.334G>C	XP_011511764.1:p.Gly112Arg
XM_011513463.1:c.334G>C	XP_011511765.1:p.Gly112Arg
XR_924947.1:n.691G>C
NM_000203.5:c.622G>C MANE Select	NP_000194.2:p.Gly208Arg
NM_001363576.1:c.226G>C	NP_001350505.1:p.Gly76Arg
XM_011513461.2:c.415G>C	XP_011511763.1:p.Gly139Arg
XM_017008163.1:c.-339G>C	XP_016863652.1:n.-339G>C