Canonical Allele Identifier: CA438057548

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995914A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002126A>C , CM000666.2:g.1002126A>C	GRCh38
NC_000004.11:g.995914A>C , CM000666.1:g.995914A>C	GRCh37
NC_000004.10:g.985914A>C	NCBI36
NG_008103.1:g.20130A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.937A>C	ENSP00000247933.4:p.Arg313=
ENST00000514224.2:c.937A>C MANE Select	ENSP00000425081.2:p.Arg313=
ENST00000652070.1:n.993A>C
ENST00000247933.8:c.937A>C	ENSP00000247933.4:p.Arg313=
ENST00000514224.1:c.541A>C	ENSP00000425081.1:p.Arg181=
ENST00000514698.5:n.937A>C
NM_000203.4:c.937A>C	NP_000194.2:p.Arg313=
NR_110313.1:n.1025A>C
XM_006713882.2:c.541A>C	XP_006713945.1:p.Arg181=
XM_011513459.1:c.896A>C	XP_011511761.1:p.Glu299Ala
XM_011513460.1:c.796A>C	XP_011511762.1:p.Arg266=
XM_011513461.1:c.730A>C	XP_011511763.1:p.Arg244=
XM_011513462.1:c.649A>C	XP_011511764.1:p.Arg217=
XM_011513463.1:c.649A>C	XP_011511765.1:p.Arg217=
XR_924947.1:n.1006A>C
NM_000203.5:c.937A>C MANE Select	NP_000194.2:p.Arg313=
NM_001363576.1:c.541A>C	NP_001350505.1:p.Arg181=
XM_011513461.2:c.730A>C	XP_011511763.1:p.Arg244=
XM_017008163.1:c.-24A>C	XP_016863652.1:n.-24A>C