Canonical Allele Identifier: CA438058021

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2866030
• ClinVar RCV Id: RCV003755951
• gnomAD v4: 4-1003148-C-G
• MyVariant Identifiers: chr4:g.996936C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003148C>G , CM000666.2:g.1003148C>G	GRCh38
NC_000004.11:g.996936C>G , CM000666.1:g.996936C>G	GRCh37
NC_000004.10:g.986936C>G	NCBI36
NG_008103.1:g.21152C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1515C>G	ENSP00000247933.4:p.Arg505=
ENST00000514224.2:c.1515C>G MANE Select	ENSP00000425081.2:p.Arg505=
ENST00000652070.1:n.1571C>G
ENST00000247933.8:c.1515C>G	ENSP00000247933.4:p.Arg505=
ENST00000502829.1:n.317C>G
ENST00000514224.1:c.1119C>G	ENSP00000425081.1:p.Arg373=
ENST00000514698.5:n.1622C>G
NM_000203.4:c.1515C>G	NP_000194.2:p.Arg505=
NR_110313.1:n.1603C>G
XM_006713882.2:c.1119C>G	XP_006713945.1:p.Arg373=
XM_011513459.1:c.1581C>G	XP_011511761.1:p.Arg527=
XM_011513460.1:c.1374C>G	XP_011511762.1:p.Arg458=
XM_011513461.1:c.1308C>G	XP_011511763.1:p.Arg436=
XM_011513462.1:c.1227C>G	XP_011511764.1:p.Arg409=
XM_011513463.1:c.1227C>G	XP_011511765.1:p.Arg409=
XR_924947.1:n.1584C>G
NM_000203.5:c.1515C>G MANE Select	NP_000194.2:p.Arg505=
NM_001363576.1:c.1119C>G	NP_001350505.1:p.Arg373=
XM_011513461.2:c.1308C>G	XP_011511763.1:p.Arg436=
XM_017008163.1:c.555C>G	XP_016863652.1:p.Arg185=