Canonical Allele Identifier: CA355962413

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995830C>G (hg19) ; chr4:g.1002042C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002042C>G , CM000666.2:g.1002042C>G	GRCh38
NC_000004.11:g.995830C>G , CM000666.1:g.995830C>G	GRCh37
NC_000004.10:g.985830C>G	NCBI36
NG_008103.1:g.20046C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.853C>G	ENSP00000247933.4:p.Gln285Glu
ENST00000514224.2:c.853C>G MANE Select	ENSP00000425081.2:p.Gln285Glu
ENST00000652070.1:n.909C>G
ENST00000247933.8:c.853C>G	ENSP00000247933.4:p.Gln285Glu
ENST00000514192.5:c.670C>G	ENSP00000423685.1:p.Gln224Glu
ENST00000514224.1:c.457C>G	ENSP00000425081.1:p.Gln153Glu
ENST00000514698.5:n.853C>G
NM_000203.4:c.853C>G	NP_000194.2:p.Gln285Glu
NR_110313.1:n.941C>G
XM_006713882.2:c.457C>G	XP_006713945.1:p.Gln153Glu
XM_011513459.1:c.812C>G	XP_011511761.1:p.Ala271Gly
XM_011513460.1:c.712C>G	XP_011511762.1:p.Gln238Glu
XM_011513461.1:c.646C>G	XP_011511763.1:p.Gln216Glu
XM_011513462.1:c.565C>G	XP_011511764.1:p.Gln189Glu
XM_011513463.1:c.565C>G	XP_011511765.1:p.Gln189Glu
XR_924947.1:n.922C>G
NM_000203.5:c.853C>G MANE Select	NP_000194.2:p.Gln285Glu
NM_001363576.1:c.457C>G	NP_001350505.1:p.Gln153Glu
XM_011513461.2:c.646C>G	XP_011511763.1:p.Gln216Glu
XM_017008163.1:c.-108C>G	XP_016863652.1:n.-108C>G