Canonical Allele Identifier: CA355962712
Gene: IDUA HGNC NCBI

Linked Data

dbSNP Id: rs1715123655
gnomAD v4: 4-1002127-G-A

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