Canonical Allele Identifier: CA2802460

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1004294A>C , CM000666.2:g.1004294A>C	GRCh38
NC_000004.11:g.998082A>C , CM000666.1:g.998082A>C	GRCh37
NC_000004.10:g.988082A>C	NCBI36
NG_008103.1:g.22298A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1863A>C MANE Select	NP_000194.2:p.Arg621=
ENST00000514224.2:c.1863A>C MANE Select	ENSP00000425081.2:p.Arg621=
NM_000203.4:c.1863A>C	NP_000194.2:p.Arg621=
NM_001363576.1:c.1467A>C	NP_001350505.1:p.Arg489=
NR_110313.1:n.1955A>C
ENST00000247933.8:c.1863A>C	ENSP00000247933.4:p.Arg621=
ENST00000247933.9:c.1863A>C	ENSP00000247933.4:p.Arg621=
ENST00000514224.1:c.1467A>C	ENSP00000425081.1:p.Arg489=
ENST00000514698.5:n.1974A>C
ENST00000652070.1:n.1919A>C
XM_006713882.2:c.1467A>C	XP_006713945.1:p.Arg489=
XM_011513459.1:c.1929A>C	XP_011511761.1:p.Arg643=
XM_011513460.1:c.1722A>C	XP_011511762.1:p.Arg574=
XM_011513461.1:c.1656A>C	XP_011511763.1:p.Arg552=
XM_011513461.2:c.1656A>C	XP_011511763.1:p.Arg552=
XM_011513462.1:c.1575A>C	XP_011511764.1:p.Arg525=
XM_011513463.1:c.1575A>C	XP_011511765.1:p.Arg525=
XM_017008163.1:c.903A>C	XP_016863652.1:p.Arg301=
XR_924947.1:n.2123A>C