Canonical Allele Identifier: CA355963740

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002809-A-G
• MyVariant Identifiers: chr4:g.996597A>G (hg19) ; chr4:g.1002809A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002809A>G , CM000666.2:g.1002809A>G	GRCh38
NC_000004.11:g.996597A>G , CM000666.1:g.996597A>G	GRCh37
NC_000004.10:g.986597A>G	NCBI36
NG_008103.1:g.20813A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1267A>G	ENSP00000247933.4:p.Ser423Gly
ENST00000514224.2:c.1267A>G MANE Select	ENSP00000425081.2:p.Ser423Gly
ENST00000652070.1:n.1323A>G
ENST00000247933.8:c.1267A>G	ENSP00000247933.4:p.Ser423Gly
ENST00000502829.1:n.69A>G
ENST00000514224.1:c.871A>G	ENSP00000425081.1:p.Ser291Gly
ENST00000514698.5:n.1374A>G
NM_000203.4:c.1267A>G	NP_000194.2:p.Ser423Gly
NR_110313.1:n.1355A>G
XM_006713882.2:c.871A>G	XP_006713945.1:p.Ser291Gly
XM_011513459.1:c.1333A>G	XP_011511761.1:p.Ser445Gly
XM_011513460.1:c.1126A>G	XP_011511762.1:p.Ser376Gly
XM_011513461.1:c.1060A>G	XP_011511763.1:p.Ser354Gly
XM_011513462.1:c.979A>G	XP_011511764.1:p.Ser327Gly
XM_011513463.1:c.979A>G	XP_011511765.1:p.Ser327Gly
XR_924947.1:n.1336A>G
NM_000203.5:c.1267A>G MANE Select	NP_000194.2:p.Ser423Gly
NM_001363576.1:c.871A>G	NP_001350505.1:p.Ser291Gly
XM_011513461.2:c.1060A>G	XP_011511763.1:p.Ser354Gly
XM_017008163.1:c.307A>G	XP_016863652.1:p.Ser103Gly