Canonical Allele Identifier: CA355965264

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997399A>C (hg19) ; chr4:g.1003611A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003611A>C , CM000666.2:g.1003611A>C	GRCh38
NC_000004.11:g.997399A>C , CM000666.1:g.997399A>C	GRCh37
NC_000004.10:g.987399A>C	NCBI36
NG_008103.1:g.21615A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1713A>C	ENSP00000247933.4:p.Glu571Asp
ENST00000514224.2:c.1713A>C MANE Select	ENSP00000425081.2:p.Glu571Asp
ENST00000652070.1:n.1769A>C
ENST00000247933.8:c.1713A>C	ENSP00000247933.4:p.Glu571Asp
ENST00000514224.1:c.1317A>C	ENSP00000425081.1:p.Glu439Asp
ENST00000514417.1:n.105A>C
ENST00000514698.5:n.1820A>C
NM_000203.4:c.1713A>C	NP_000194.2:p.Glu571Asp
NR_110313.1:n.1801A>C
XM_006713882.2:c.1317A>C	XP_006713945.1:p.Glu439Asp
XM_011513459.1:c.1779A>C	XP_011511761.1:p.Glu593Asp
XM_011513460.1:c.1572A>C	XP_011511762.1:p.Glu524Asp
XM_011513461.1:c.1506A>C	XP_011511763.1:p.Glu502Asp
XM_011513462.1:c.1425A>C	XP_011511764.1:p.Glu475Asp
XM_011513463.1:c.1425A>C	XP_011511765.1:p.Glu475Asp
XR_924947.1:n.1969A>C
NM_000203.5:c.1713A>C MANE Select	NP_000194.2:p.Glu571Asp
NM_001363576.1:c.1317A>C	NP_001350505.1:p.Glu439Asp
XM_011513461.2:c.1506A>C	XP_011511763.1:p.Glu502Asp
XM_017008163.1:c.753A>C	XP_016863652.1:p.Glu251Asp