Canonical Allele Identifier: CA355965269

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997401A>C (hg19) ; chr4:g.1003613A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003613A>C , CM000666.2:g.1003613A>C	GRCh38
NC_000004.11:g.997401A>C , CM000666.1:g.997401A>C	GRCh37
NC_000004.10:g.987401A>C	NCBI36
NG_008103.1:g.21617A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1715A>C	ENSP00000247933.4:p.His572Pro
ENST00000514224.2:c.1715A>C MANE Select	ENSP00000425081.2:p.His572Pro
ENST00000652070.1:n.1771A>C
ENST00000247933.8:c.1715A>C	ENSP00000247933.4:p.His572Pro
ENST00000514224.1:c.1319A>C	ENSP00000425081.1:p.His440Pro
ENST00000514417.1:n.107A>C
ENST00000514698.5:n.1822A>C
NM_000203.4:c.1715A>C	NP_000194.2:p.His572Pro
NR_110313.1:n.1803A>C
XM_006713882.2:c.1319A>C	XP_006713945.1:p.His440Pro
XM_011513459.1:c.1781A>C	XP_011511761.1:p.His594Pro
XM_011513460.1:c.1574A>C	XP_011511762.1:p.His525Pro
XM_011513461.1:c.1508A>C	XP_011511763.1:p.His503Pro
XM_011513462.1:c.1427A>C	XP_011511764.1:p.His476Pro
XM_011513463.1:c.1427A>C	XP_011511765.1:p.His476Pro
XR_924947.1:n.1971A>C
NM_000203.5:c.1715A>C MANE Select	NP_000194.2:p.His572Pro
NM_001363576.1:c.1319A>C	NP_001350505.1:p.His440Pro
XM_011513461.2:c.1508A>C	XP_011511763.1:p.His503Pro
XM_017008163.1:c.755A>C	XP_016863652.1:p.His252Pro