Canonical Allele Identifier: CA438057891

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003386-C-G
• MyVariant Identifiers: chr4:g.997174C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003386C>G , CM000666.2:g.1003386C>G	GRCh38
NC_000004.11:g.997174C>G , CM000666.1:g.997174C>G	GRCh37
NC_000004.10:g.987174C>G	NCBI36
NG_008103.1:g.21390C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1566C>G	ENSP00000247933.4:p.Gly522=
ENST00000514224.2:c.1566C>G MANE Select	ENSP00000425081.2:p.Gly522=
ENST00000652070.1:n.1622C>G
ENST00000247933.8:c.1566C>G	ENSP00000247933.4:p.Gly522=
ENST00000502829.1:n.555C>G
ENST00000514224.1:c.1170C>G	ENSP00000425081.1:p.Gly390=
ENST00000514698.5:n.1673C>G
NM_000203.4:c.1566C>G	NP_000194.2:p.Gly522=
NR_110313.1:n.1654C>G
XM_006713882.2:c.1170C>G	XP_006713945.1:p.Gly390=
XM_011513459.1:c.1632C>G	XP_011511761.1:p.Gly544=
XM_011513460.1:c.1425C>G	XP_011511762.1:p.Gly475=
XM_011513461.1:c.1359C>G	XP_011511763.1:p.Gly453=
XM_011513462.1:c.1278C>G	XP_011511764.1:p.Gly426=
XM_011513463.1:c.1278C>G	XP_011511765.1:p.Gly426=
XR_924947.1:n.1822C>G
NM_000203.5:c.1566C>G MANE Select	NP_000194.2:p.Gly522=
NM_001363576.1:c.1170C>G	NP_001350505.1:p.Gly390=
XM_011513461.2:c.1359C>G	XP_011511763.1:p.Gly453=
XM_017008163.1:c.606C>G	XP_016863652.1:p.Gly202=