Canonical Allele Identifier: CA355961282

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.994676A>C (hg19) ; chr4:g.1000888A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1000888A>C , CM000666.2:g.1000888A>C	GRCh38
NC_000004.11:g.994676A>C , CM000666.1:g.994676A>C	GRCh37
NC_000004.10:g.984676A>C	NCBI36
NG_008103.1:g.18892A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.392A>C	ENSP00000247933.4:p.Glu131Ala
ENST00000514224.2:c.392A>C MANE Select	ENSP00000425081.2:p.Glu131Ala
ENST00000652070.1:n.448A>C
ENST00000247933.8:c.392A>C	ENSP00000247933.4:p.Glu131Ala
ENST00000502910.5:c.251A>C	ENSP00000422952.1:p.Glu84Ala
ENST00000504568.5:c.352A>C
ENST00000506561.5:n.401A>C
ENST00000508168.5:n.270A>C
ENST00000509948.5:c.185A>C	ENSP00000424227.1:p.Glu62Ala
ENST00000514192.5:c.209A>C	ENSP00000423685.1:p.Glu70Ala
ENST00000514224.1:c.-5A>C	ENSP00000425081.1:n.-5A>C
ENST00000514698.5:n.292A>C
NM_000203.4:c.392A>C	NP_000194.2:p.Glu131Ala
NR_110313.1:n.480A>C
XM_006713882.2:c.-5A>C	XP_006713945.1:n.-5A>C
XM_011513459.1:c.251A>C	XP_011511761.1:p.Glu84Ala
XM_011513460.1:c.251A>C	XP_011511762.1:p.Glu84Ala
XM_011513461.1:c.185A>C	XP_011511763.1:p.Glu62Ala
XM_011513462.1:c.104A>C	XP_011511764.1:p.Glu35Ala
XM_011513463.1:c.104A>C	XP_011511765.1:p.Glu35Ala
XR_924947.1:n.461A>C
NM_000203.5:c.392A>C MANE Select	NP_000194.2:p.Glu131Ala
NM_001363576.1:c.-5A>C	NP_001350505.1:n.-5A>C
XM_011513461.2:c.185A>C	XP_011511763.1:p.Glu62Ala
XM_017008163.1:c.-1075A>C	XP_016863652.1:n.-1075A>C