Canonical Allele Identifier: CA355962523

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002090G>C , CM000666.2:g.1002090G>C	GRCh38
NC_000004.11:g.995878G>C , CM000666.1:g.995878G>C	GRCh37
NC_000004.10:g.985878G>C	NCBI36
NG_008103.1:g.20094G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.901G>C MANE Select	NP_000194.2:p.Asp301His
ENST00000514224.2:c.901G>C MANE Select	ENSP00000425081.2:p.Asp301His
NM_000203.4:c.901G>C	NP_000194.2:p.Asp301His
NM_001363576.1:c.505G>C	NP_001350505.1:p.Asp169His
NR_110313.1:n.989G>C
ENST00000247933.8:c.901G>C	ENSP00000247933.4:p.Asp301His
ENST00000247933.9:c.901G>C	ENSP00000247933.4:p.Asp301His
ENST00000514224.1:c.505G>C	ENSP00000425081.1:p.Asp169His
ENST00000514698.5:n.901G>C
ENST00000652070.1:n.957G>C
XM_006713882.2:c.505G>C	XP_006713945.1:p.Asp169His
XM_011513459.1:c.860G>C	XP_011511761.1:p.Gly287Ala
XM_011513460.1:c.760G>C	XP_011511762.1:p.Asp254His
XM_011513461.1:c.694G>C	XP_011511763.1:p.Asp232His
XM_011513461.2:c.694G>C	XP_011511763.1:p.Asp232His
XM_011513462.1:c.613G>C	XP_011511764.1:p.Asp205His
XM_011513463.1:c.613G>C	XP_011511765.1:p.Asp205His
XM_017008163.1:c.-60G>C	XP_016863652.1:n.-60G>C
XR_924947.1:n.970G>C