Canonical Allele Identifier: CA438058083

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997156C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003368C>G , CM000666.2:g.1003368C>G	GRCh38
NC_000004.11:g.997156C>G , CM000666.1:g.997156C>G	GRCh37
NC_000004.10:g.987156C>G	NCBI36
NG_008103.1:g.21372C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1548C>G	ENSP00000247933.4:p.Arg516=
ENST00000514224.2:c.1548C>G MANE Select	ENSP00000425081.2:p.Arg516=
ENST00000652070.1:n.1604C>G
ENST00000247933.8:c.1548C>G	ENSP00000247933.4:p.Arg516=
ENST00000502829.1:n.537C>G
ENST00000514224.1:c.1152C>G	ENSP00000425081.1:p.Arg384=
ENST00000514698.5:n.1655C>G
NM_000203.4:c.1548C>G	NP_000194.2:p.Arg516=
NR_110313.1:n.1636C>G
XM_006713882.2:c.1152C>G	XP_006713945.1:p.Arg384=
XM_011513459.1:c.1614C>G	XP_011511761.1:p.Arg538=
XM_011513460.1:c.1407C>G	XP_011511762.1:p.Arg469=
XM_011513461.1:c.1341C>G	XP_011511763.1:p.Arg447=
XM_011513462.1:c.1260C>G	XP_011511764.1:p.Arg420=
XM_011513463.1:c.1260C>G	XP_011511765.1:p.Arg420=
XR_924947.1:n.1804C>G
NM_000203.5:c.1548C>G MANE Select	NP_000194.2:p.Arg516=
NM_001363576.1:c.1152C>G	NP_001350505.1:p.Arg384=
XM_011513461.2:c.1341C>G	XP_011511763.1:p.Arg447=
XM_017008163.1:c.588C>G	XP_016863652.1:p.Arg196=