Canonical Allele Identifier: CA355965196

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997368A>C (hg19) ; chr4:g.1003580A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003580A>C , CM000666.2:g.1003580A>C	GRCh38
NC_000004.11:g.997368A>C , CM000666.1:g.997368A>C	GRCh37
NC_000004.10:g.987368A>C	NCBI36
NG_008103.1:g.21584A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1682A>C	ENSP00000247933.4:p.Gln561Pro
ENST00000514224.2:c.1682A>C MANE Select	ENSP00000425081.2:p.Gln561Pro
ENST00000652070.1:n.1738A>C
ENST00000247933.8:c.1682A>C	ENSP00000247933.4:p.Gln561Pro
ENST00000514224.1:c.1286A>C	ENSP00000425081.1:p.Gln429Pro
ENST00000514417.1:n.74A>C
ENST00000514698.5:n.1789A>C
NM_000203.4:c.1682A>C	NP_000194.2:p.Gln561Pro
NR_110313.1:n.1770A>C
XM_006713882.2:c.1286A>C	XP_006713945.1:p.Gln429Pro
XM_011513459.1:c.1748A>C	XP_011511761.1:p.Gln583Pro
XM_011513460.1:c.1541A>C	XP_011511762.1:p.Gln514Pro
XM_011513461.1:c.1475A>C	XP_011511763.1:p.Gln492Pro
XM_011513462.1:c.1394A>C	XP_011511764.1:p.Gln465Pro
XM_011513463.1:c.1394A>C	XP_011511765.1:p.Gln465Pro
XR_924947.1:n.1938A>C
NM_000203.5:c.1682A>C MANE Select	NP_000194.2:p.Gln561Pro
NM_001363576.1:c.1286A>C	NP_001350505.1:p.Gln429Pro
XM_011513461.2:c.1475A>C	XP_011511763.1:p.Gln492Pro
XM_017008163.1:c.722A>C	XP_016863652.1:p.Gln241Pro