Canonical Allele Identifier: CA2802160
Gene: IDUA HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.1002298G>A
GRCh37 chr4:g.996086G>A
gnomAD v2:
4:996086 G / A
gnomAD v3:
4:1002298 G / A
gnomAD v4:
chr4-1002298-G-A
Joint Max Group AF 0.00026462 (NFE)
Genomes Max Group AF 0.00026696 (NFE)
Exomes Max Group AF 0.00025836 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1002298G>A , CM000666.2:g.1002298G>A GRCh38
NC_000004.11:g.996086G>A , CM000666.1:g.996086G>A GRCh37
NC_000004.10:g.986086G>A NCBI36
NG_008103.1:g.20302G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.1002G>A ENSP00000247933.4:p.Leu334=
ENST00000514224.2:c.1002G>A MANE Select ENSP00000425081.2:p.Leu334=
ENST00000652070.1:n.1058G>A
ENST00000247933.8:c.1002G>A ENSP00000247933.4:p.Leu334=
ENST00000514224.1:c.606G>A ENSP00000425081.1:p.Leu202=
ENST00000514698.5:n.1109G>A
NM_000203.4:c.1002G>A NP_000194.2:p.Leu334=
NR_110313.1:n.1090G>A
XM_006713882.2:c.606G>A XP_006713945.1:p.Leu202=
XM_011513459.1:c.1068G>A XP_011511761.1:p.Leu356=
XM_011513460.1:c.861G>A XP_011511762.1:p.Leu287=
XM_011513461.1:c.795G>A XP_011511763.1:p.Leu265=
XM_011513462.1:c.714G>A XP_011511764.1:p.Leu238=
XM_011513463.1:c.714G>A XP_011511765.1:p.Leu238=
XR_924947.1:n.1071G>A
NM_000203.5:c.1002G>A MANE Select NP_000194.2:p.Leu334=
NM_001363576.1:c.606G>A NP_001350505.1:p.Leu202=
XM_011513461.2:c.795G>A XP_011511763.1:p.Leu265=
XM_017008163.1:c.42G>A XP_016863652.1:p.Leu14=
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