Canonical Allele Identifier: CA2739858885

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001964A>C , CM000666.2:g.1001964A>C	GRCh38
NC_000004.11:g.995752A>C , CM000666.1:g.995752A>C	GRCh37
NC_000004.10:g.985752A>C	NCBI36
NG_008103.1:g.19968A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.793-18A>C	ENSP00000247933.4:n.793-18A>C
ENST00000514224.2:c.793-18A>C MANE Select	ENSP00000425081.2:n.793-18A>C
ENST00000652070.1:n.849-18A>C
ENST00000247933.8:c.793-18A>C	ENSP00000247933.4:n.793-18A>C
ENST00000502910.5:c.652-18A>C	ENSP00000422952.1:n.652-18A>C
ENST00000514192.5:c.610-18A>C	ENSP00000423685.1:n.610-18A>C
ENST00000514224.1:c.397-18A>C	ENSP00000425081.1:n.397-18A>C
ENST00000514698.5:n.775A>C
NM_000203.4:c.793-18A>C	NP_000194.2:n.793-18A>C
NR_110313.1:n.881-18A>C
XM_006713882.2:c.397-18A>C	XP_006713945.1:n.397-18A>C
XM_011513459.1:c.734A>C	XP_011511761.1:p.Glu245Ala
XM_011513460.1:c.652-18A>C	XP_011511762.1:n.652-18A>C
XM_011513461.1:c.586-18A>C	XP_011511763.1:n.586-18A>C
XM_011513462.1:c.505-18A>C	XP_011511764.1:n.505-18A>C
XM_011513463.1:c.505-18A>C	XP_011511765.1:n.505-18A>C
XR_924947.1:n.862-18A>C
NM_000203.5:c.793-18A>C MANE Select	NP_000194.2:n.793-18A>C
NM_001363576.1:c.397-18A>C	NP_001350505.1:n.397-18A>C
XM_011513461.2:c.586-18A>C	XP_011511763.1:n.586-18A>C
XM_017008163.1:c.-168-18A>C	XP_016863652.1:n.-168-18A>C