Canonical Allele Identifier: CA355963895
Gene: IDUA HGNC NCBI

Linked Data

dbSNP Id: rs1181180741
gnomAD v2: 4-996636-G-A
gnomAD v3: 4-1002848-G-A
gnomAD v4: 4-1002848-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1002848G>A , CM000666.2:g.1002848G>A GRCh38
NC_000004.11:g.996636G>A , CM000666.1:g.996636G>A GRCh37
NC_000004.10:g.986636G>A NCBI36
NG_008103.1:g.20852G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.1306G>A ENSP00000247933.4:p.Ala436Thr
ENST00000514224.2:c.1306G>A MANE Select ENSP00000425081.2:p.Ala436Thr
ENST00000652070.1:n.1362G>A
ENST00000247933.8:c.1306G>A ENSP00000247933.4:p.Ala436Thr
ENST00000502829.1:n.108G>A
ENST00000514224.1:c.910G>A ENSP00000425081.1:p.Ala304Thr
ENST00000514698.5:n.1413G>A
NM_000203.4:c.1306G>A NP_000194.2:p.Ala436Thr
NR_110313.1:n.1394G>A
XM_006713882.2:c.910G>A XP_006713945.1:p.Ala304Thr
XM_011513459.1:c.1372G>A XP_011511761.1:p.Ala458Thr
XM_011513460.1:c.1165G>A XP_011511762.1:p.Ala389Thr
XM_011513461.1:c.1099G>A XP_011511763.1:p.Ala367Thr
XM_011513462.1:c.1018G>A XP_011511764.1:p.Ala340Thr
XM_011513463.1:c.1018G>A XP_011511765.1:p.Ala340Thr
XR_924947.1:n.1375G>A
NM_000203.5:c.1306G>A MANE Select NP_000194.2:p.Ala436Thr
NM_001363576.1:c.910G>A NP_001350505.1:p.Ala304Thr
XM_011513461.2:c.1099G>A XP_011511763.1:p.Ala367Thr
XM_017008163.1:c.346G>A XP_016863652.1:p.Ala116Thr