Canonical Allele Identifier: CA355962712

Gene: IDUA

Linked Data

• dbSNP Id: rs1715123655
• gnomAD v4: 4-1002127-G-A
• MyVariant Identifiers: chr4:g.995915G>A (hg19) ; chr4:g.1002127G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002127G>A , CM000666.2:g.1002127G>A	GRCh38
NC_000004.11:g.995915G>A , CM000666.1:g.995915G>A	GRCh37
NC_000004.10:g.985915G>A	NCBI36
NG_008103.1:g.20131G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.938G>A	ENSP00000247933.4:p.Arg313Lys
ENST00000514224.2:c.938G>A MANE Select	ENSP00000425081.2:p.Arg313Lys
ENST00000652070.1:n.994G>A
ENST00000247933.8:c.938G>A	ENSP00000247933.4:p.Arg313Lys
ENST00000514224.1:c.542G>A	ENSP00000425081.1:p.Arg181Lys
ENST00000514698.5:n.938G>A
NM_000203.4:c.938G>A	NP_000194.2:p.Arg313Lys
NR_110313.1:n.1026G>A
XM_006713882.2:c.542G>A	XP_006713945.1:p.Arg181Lys
XM_011513459.1:c.897G>A	XP_011511761.1:p.Glu299=
XM_011513460.1:c.797G>A	XP_011511762.1:p.Arg266Lys
XM_011513461.1:c.731G>A	XP_011511763.1:p.Arg244Lys
XM_011513462.1:c.650G>A	XP_011511764.1:p.Arg217Lys
XM_011513463.1:c.650G>A	XP_011511765.1:p.Arg217Lys
XR_924947.1:n.1007G>A
NM_000203.5:c.938G>A MANE Select	NP_000194.2:p.Arg313Lys
NM_001363576.1:c.542G>A	NP_001350505.1:p.Arg181Lys
XM_011513461.2:c.731G>A	XP_011511763.1:p.Arg244Lys
XM_017008163.1:c.-23G>A	XP_016863652.1:n.-23G>A