Canonical Allele Identifier: CA2580092706
Gene: ALDH3A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1878545
ClinVar RCV Id: RCV002510636

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.19671875dup , CM000679.2:g.19671875dup GRCh38
NC_000017.10:g.19575188dup , CM000679.1:g.19575188dup GRCh37
NC_000017.9:g.19515780dup NCBI36
NG_007095.2:g.28125dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000176643.11:c.1362dup MANE Select ENSP00000176643.6:p.Leu455SerfsTer?
ENST00000395575.7:c.1035dup ENSP00000378942.3:p.Leu346SerfsTer?
ENST00000472059.6:c.*920dup ENSP00000458397.1:n.*920dup
ENST00000571163.2:c.227-3621dup ENSP00000459977.2:n.227-3621dup
ENST00000573947.2:c.162dup ENSP00000462933.2:p.Leu55SerfsTer29
ENST00000574078.3:n.691dup
ENST00000581518.6:c.1362dup ENSP00000461916.2:p.Leu455SerfsTer?
ENST00000582991.6:c.*80dup ENSP00000464153.1:n.*80dup
ENST00000671878.1:c.1362dup ENSP00000500516.1:p.Leu455SerfsTer?
ENST00000672059.1:n.1713dup
ENST00000672357.1:c.1362dup ENSP00000500092.1:p.Leu455SerfsTer?
ENST00000672465.1:c.1362dup ENSP00000500517.1:p.Leu455SerfsTer?
ENST00000672487.1:c.*542dup ENSP00000500740.1:n.*542dup
ENST00000672564.1:n.3031dup
ENST00000672567.1:c.1098+6828dup
ENST00000672591.1:c.422dup
ENST00000672608.1:n.2351dup
ENST00000672709.1:c.1216dup
ENST00000673064.1:n.1862dup
ENST00000673136.1:c.1208-3621dup ENSP00000500380.1:n.1208-3621dup
ENST00000673472.1:n.1698dup
ENST00000673516.1:n.1822dup
ENST00000176643.10:c.1362dup ENSP00000176643.6:p.Leu455SerfsTer?
ENST00000339618.8:c.1362dup ENSP00000345774.4:p.Leu455SerfsTer?
ENST00000395575.6:c.1362dup ENSP00000378942.2:p.Leu455SerfsTer?
ENST00000472059.5:c.*920dup ENSP00000458397.1:n.*920dup
ENST00000476965.5:n.1112dup
ENST00000571163.1:c.227-3683dup ENSP00000459977.1:n.227-3683dup
ENST00000573565.1:c.77dup
ENST00000573947.1:c.269dup ENSP00000462933.1:n.269dup
ENST00000575384.2:c.108dup ENSP00000461235.2:p.Leu37SerfsTer?
ENST00000579855.5:c.1362dup ENSP00000463637.1:p.Leu455SerfsTer?
ENST00000581518.5:c.1362dup ENSP00000461916.1:p.Leu455SerfsTer?
ENST00000582991.5:c.*80dup ENSP00000464153.1:n.*80dup
ENST00000630662.2:c.227-3683dup ENSP00000487353.1:n.227-3683dup
ENST00000631291.2:c.*80dup ENSP00000486085.1:n.*80dup
NM_000382.2:c.1362dup NP_000373.1:p.Leu455SerfsTer?
NM_001031806.1:c.1362dup NP_001026976.1:p.Leu455SerfsTer?
XM_011523732.1:c.1362dup XP_011522034.1:p.Leu455SerfsTer?
XM_011523733.1:c.1362dup XP_011522035.1:p.Leu455SerfsTer?
XM_011523733.2:c.1362dup XP_011522035.1:p.Leu455SerfsTer?
XM_017024355.1:c.1208-3683dup XP_016879844.1:n.1208-3683dup
XM_017024356.2:c.1362dup XP_016879845.1:p.Leu455SerfsTer?
XM_017024357.1:c.1362dup XP_016879846.1:p.Leu455SerfsTer?
XM_017024358.2:c.1208-3683dup XP_016879847.1:n.1208-3683dup
XM_024450651.1:c.783dup XP_024306419.1:p.Leu262SerfsTer?
XM_024450652.1:c.783dup XP_024306420.1:p.Leu262SerfsTer?
NM_000382.3:c.1362dup MANE Select NP_000373.1:p.Leu455SerfsTer?
NM_001031806.2:c.1362dup NP_001026976.1:p.Leu455SerfsTer?
NM_001369136.1:c.1362dup NP_001356065.1:p.Leu455SerfsTer?
NM_001369137.1:c.1362dup NP_001356066.1:p.Leu455SerfsTer?
NM_001369138.1:c.1362dup NP_001356067.1:p.Leu455SerfsTer?
NM_001369139.1:c.1362dup NP_001356068.1:p.Leu455SerfsTer?
NM_001369146.1:c.1208-3683dup NP_001356075.1:n.1208-3683dup
NM_001369148.1:c.783dup NP_001356077.1:p.Leu262SerfsTer?
NM_001369137.2:c.1362dup NP_001356066.1:p.Leu455SerfsTer?
NM_001369138.2:c.1362dup NP_001356067.1:p.Leu455SerfsTer?
NM_001369146.2:c.1208-3683dup NP_001356075.1:n.1208-3683dup
NM_001369148.2:c.783dup NP_001356077.1:p.Leu262SerfsTer?