Canonical Allele Identifier: CA355962319

Gene: IDUA

Linked Data

• dbSNP Id: rs1450239242
• gnomAD v2: 4-995785-A-G
• gnomAD v4: 4-1001997-A-G
• MyVariant Identifiers: chr4:g.995785A>G (hg19) ; chr4:g.1001997A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001997A>G , CM000666.2:g.1001997A>G	GRCh38
NC_000004.11:g.995785A>G , CM000666.1:g.995785A>G	GRCh37
NC_000004.10:g.985785A>G	NCBI36
NG_008103.1:g.20001A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.808A>G	ENSP00000247933.4:p.Ile270Val
ENST00000514224.2:c.808A>G MANE Select	ENSP00000425081.2:p.Ile270Val
ENST00000652070.1:n.864A>G
ENST00000247933.8:c.808A>G	ENSP00000247933.4:p.Ile270Val
ENST00000502910.5:c.667A>G	ENSP00000422952.1:p.Ile223Val
ENST00000514192.5:c.625A>G	ENSP00000423685.1:p.Ile209Val
ENST00000514224.1:c.412A>G	ENSP00000425081.1:p.Ile138Val
ENST00000514698.5:n.808A>G
NM_000203.4:c.808A>G	NP_000194.2:p.Ile270Val
NR_110313.1:n.896A>G
XM_006713882.2:c.412A>G	XP_006713945.1:p.Ile138Val
XM_011513459.1:c.767A>G	XP_011511761.1:p.His256Arg
XM_011513460.1:c.667A>G	XP_011511762.1:p.Ile223Val
XM_011513461.1:c.601A>G	XP_011511763.1:p.Ile201Val
XM_011513462.1:c.520A>G	XP_011511764.1:p.Ile174Val
XM_011513463.1:c.520A>G	XP_011511765.1:p.Ile174Val
XR_924947.1:n.877A>G
NM_000203.5:c.808A>G MANE Select	NP_000194.2:p.Ile270Val
NM_001363576.1:c.412A>G	NP_001350505.1:p.Ile138Val
XM_011513461.2:c.601A>G	XP_011511763.1:p.Ile201Val
XM_017008163.1:c.-153A>G	XP_016863652.1:n.-153A>G