Canonical Allele Identifier: CA355963291

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996168C>G (hg19) ; chr4:g.1002380C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002380C>G , CM000666.2:g.1002380C>G	GRCh38
NC_000004.11:g.996168C>G , CM000666.1:g.996168C>G	GRCh37
NC_000004.10:g.986168C>G	NCBI36
NG_008103.1:g.20384C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1084C>G	ENSP00000247933.4:p.Gln362Glu
ENST00000514224.2:c.1084C>G MANE Select	ENSP00000425081.2:p.Gln362Glu
ENST00000652070.1:n.1140C>G
ENST00000247933.8:c.1084C>G	ENSP00000247933.4:p.Gln362Glu
ENST00000514224.1:c.688C>G	ENSP00000425081.1:p.Gln230Glu
ENST00000514698.5:n.1191C>G
NM_000203.4:c.1084C>G	NP_000194.2:p.Gln362Glu
NR_110313.1:n.1172C>G
XM_006713882.2:c.688C>G	XP_006713945.1:p.Gln230Glu
XM_011513459.1:c.1150C>G	XP_011511761.1:p.Gln384Glu
XM_011513460.1:c.943C>G	XP_011511762.1:p.Gln315Glu
XM_011513461.1:c.877C>G	XP_011511763.1:p.Gln293Glu
XM_011513462.1:c.796C>G	XP_011511764.1:p.Gln266Glu
XM_011513463.1:c.796C>G	XP_011511765.1:p.Gln266Glu
XR_924947.1:n.1153C>G
NM_000203.5:c.1084C>G MANE Select	NP_000194.2:p.Gln362Glu
NM_001363576.1:c.688C>G	NP_001350505.1:p.Gln230Glu
XM_011513461.2:c.877C>G	XP_011511763.1:p.Gln293Glu
XM_017008163.1:c.124C>G	XP_016863652.1:p.Gln42Glu