Canonical Allele Identifier: CA398711016
Gene: ALDH3A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.19671918C>A , CM000679.2:g.19671918C>A GRCh38
NC_000017.10:g.19575231C>A , CM000679.1:g.19575231C>A GRCh37
NC_000017.9:g.19515823C>A NCBI36
NG_007095.2:g.28168C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000176643.11:c.1405C>A MANE Select ENSP00000176643.6:p.Leu469Ile
ENST00000395575.7:c.1078C>A ENSP00000378942.3:p.Leu360Ile
ENST00000472059.6:c.*963C>A ENSP00000458397.1:n.*963C>A
ENST00000571163.2:c.227-3578C>A ENSP00000459977.2:n.227-3578C>A
ENST00000573947.2:c.205C>A ENSP00000462933.2:p.Leu69Ile
ENST00000574078.3:n.734C>A
ENST00000581518.6:c.1405C>A ENSP00000461916.2:p.Leu469Ile
ENST00000582991.6:c.*123C>A ENSP00000464153.1:n.*123C>A
ENST00000671878.1:c.1405C>A ENSP00000500516.1:p.Leu469Ile
ENST00000672059.1:n.1756C>A
ENST00000672357.1:c.1405C>A ENSP00000500092.1:p.Leu469Ile
ENST00000672465.1:c.1405C>A ENSP00000500517.1:p.Leu469Ile
ENST00000672487.1:c.*585C>A ENSP00000500740.1:n.*585C>A
ENST00000672564.1:n.3074C>A
ENST00000672567.1:c.1098+6871C>A
ENST00000672591.1:c.465C>A
ENST00000672608.1:n.2394C>A
ENST00000672709.1:c.1259C>A
ENST00000673064.1:n.1905C>A
ENST00000673136.1:c.1208-3578C>A ENSP00000500380.1:n.1208-3578C>A
ENST00000673472.1:n.1741C>A
ENST00000673516.1:n.1865C>A
ENST00000176643.10:c.1405C>A ENSP00000176643.6:p.Leu469Ile
ENST00000339618.8:c.1405C>A ENSP00000345774.4:p.Leu469Ile
ENST00000395575.6:c.1405C>A ENSP00000378942.2:p.Leu469Ile
ENST00000472059.5:c.*963C>A ENSP00000458397.1:n.*963C>A
ENST00000476965.5:n.1155C>A
ENST00000571163.1:c.227-3640C>A ENSP00000459977.1:n.227-3640C>A
ENST00000573565.1:c.120C>A
ENST00000573947.1:c.312C>A ENSP00000462933.1:n.312C>A
ENST00000575384.2:c.151C>A ENSP00000461235.2:p.Leu51Ile
ENST00000579855.5:c.1405C>A ENSP00000463637.1:p.Leu469Ile
ENST00000581518.5:c.1405C>A ENSP00000461916.1:p.Leu469Ile
ENST00000582991.5:c.*123C>A ENSP00000464153.1:n.*123C>A
ENST00000630662.2:c.227-3640C>A ENSP00000487353.1:n.227-3640C>A
ENST00000631291.2:c.*123C>A ENSP00000486085.1:n.*123C>A
NM_000382.2:c.1405C>A NP_000373.1:p.Leu469Ile
NM_001031806.1:c.1405C>A NP_001026976.1:p.Leu469Ile
XM_011523732.1:c.1405C>A XP_011522034.1:p.Leu469Ile
XM_011523733.1:c.1405C>A XP_011522035.1:p.Leu469Ile
XM_011523733.2:c.1405C>A XP_011522035.1:p.Leu469Ile
XM_017024355.1:c.1208-3640C>A XP_016879844.1:n.1208-3640C>A
XM_017024356.2:c.1405C>A XP_016879845.1:p.Leu469Ile
XM_017024357.1:c.1405C>A XP_016879846.1:p.Leu469Ile
XM_017024358.2:c.1208-3640C>A XP_016879847.1:n.1208-3640C>A
XM_024450651.1:c.826C>A XP_024306419.1:p.Leu276Ile
XM_024450652.1:c.826C>A XP_024306420.1:p.Leu276Ile
NM_000382.3:c.1405C>A MANE Select NP_000373.1:p.Leu469Ile
NM_001031806.2:c.1405C>A NP_001026976.1:p.Leu469Ile
NM_001369136.1:c.1405C>A NP_001356065.1:p.Leu469Ile
NM_001369137.1:c.1405C>A NP_001356066.1:p.Leu469Ile
NM_001369138.1:c.1405C>A NP_001356067.1:p.Leu469Ile
NM_001369139.1:c.1405C>A NP_001356068.1:p.Leu469Ile
NM_001369146.1:c.1208-3640C>A NP_001356075.1:n.1208-3640C>A
NM_001369148.1:c.826C>A NP_001356077.1:p.Leu276Ile
NM_001369137.2:c.1405C>A NP_001356066.1:p.Leu469Ile
NM_001369138.2:c.1405C>A NP_001356067.1:p.Leu469Ile
NM_001369146.2:c.1208-3640C>A NP_001356075.1:n.1208-3640C>A
NM_001369148.2:c.826C>A NP_001356077.1:p.Leu276Ile