Canonical Allele Identifier: CA355962710

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995914A>T (hg19) ; chr4:g.1002126A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.937A>T	ENSP00000247933.4:p.Arg313Trp
ENST00000514224.2:c.937A>T MANE Select	ENSP00000425081.2:p.Arg313Trp
ENST00000652070.1:n.993A>T
ENST00000247933.8:c.937A>T	ENSP00000247933.4:p.Arg313Trp
ENST00000514224.1:c.541A>T	ENSP00000425081.1:p.Arg181Trp
ENST00000514698.5:n.937A>T
NM_000203.4:c.937A>T	NP_000194.2:p.Arg313Trp
NR_110313.1:n.1025A>T
XM_006713882.2:c.541A>T	XP_006713945.1:p.Arg181Trp
XM_011513459.1:c.896A>T	XP_011511761.1:p.Glu299Val
XM_011513460.1:c.796A>T	XP_011511762.1:p.Arg266Trp
XM_011513461.1:c.730A>T	XP_011511763.1:p.Arg244Trp
XM_011513462.1:c.649A>T	XP_011511764.1:p.Arg217Trp
XM_011513463.1:c.649A>T	XP_011511765.1:p.Arg217Trp
XR_924947.1:n.1006A>T
NM_000203.5:c.937A>T MANE Select	NP_000194.2:p.Arg313Trp
NM_001363576.1:c.541A>T	NP_001350505.1:p.Arg181Trp
XM_011513461.2:c.730A>T	XP_011511763.1:p.Arg244Trp
XM_017008163.1:c.-24A>T	XP_016863652.1:n.-24A>T