Canonical Allele Identifier: CA398706791
Community Standard Title: NM_000382.3(ALDH3A2):c.723C>A (p.Cys241Ter)
Gene: ALDH3A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.19657787C>A , CM000679.2:g.19657787C>A GRCh38
NC_000017.10:g.19561100C>A , CM000679.1:g.19561100C>A GRCh37
NC_000017.9:g.19501692C>A NCBI36
NG_007095.2:g.14037C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000382.3:c.723C>A MANE Select NP_000373.1:p.Cys241Ter
ENST00000176643.11:c.723C>A MANE Select ENSP00000176643.6:p.Cys241Ter
NM_000382.2:c.723C>A NP_000373.1:p.Cys241Ter
NM_001031806.1:c.723C>A NP_001026976.1:p.Cys241Ter
NM_001031806.2:c.723C>A NP_001026976.1:p.Cys241Ter
NM_001369136.1:c.723C>A NP_001356065.1:p.Cys241Ter
NM_001369137.1:c.723C>A NP_001356066.1:p.Cys241Ter
NM_001369137.2:c.723C>A NP_001356066.1:p.Cys241Ter
NM_001369138.1:c.723C>A NP_001356067.1:p.Cys241Ter
NM_001369138.2:c.723C>A NP_001356067.1:p.Cys241Ter
NM_001369139.1:c.723C>A NP_001356068.1:p.Cys241Ter
NM_001369146.1:c.723C>A NP_001356075.1:p.Cys241Ter
NM_001369146.2:c.723C>A NP_001356075.1:p.Cys241Ter
NM_001369148.1:c.144C>A NP_001356077.1:p.Cys48Ter
NM_001369148.2:c.144C>A NP_001356077.1:p.Cys48Ter
ENST00000176643.10:c.723C>A ENSP00000176643.6:p.Cys241Ter
ENST00000339618.8:c.723C>A ENSP00000345774.4:p.Cys241Ter
ENST00000395575.6:c.723C>A ENSP00000378942.2:p.Cys241Ter
ENST00000395575.7:c.472-3340C>A ENSP00000378942.3:n.472-3340C>A
ENST00000472059.5:c.*281C>A ENSP00000458397.1:n.*281C>A
ENST00000472059.6:c.*281C>A ENSP00000458397.1:n.*281C>A
ENST00000476965.5:n.473C>A
ENST00000571537.1:c.216C>A ENSP00000458942.1:p.Cys72Ter
ENST00000578696.1:c.154C>A
ENST00000579855.5:c.723C>A ENSP00000463637.1:p.Cys241Ter
ENST00000581518.5:c.723C>A ENSP00000461916.1:p.Cys241Ter
ENST00000581518.6:c.723C>A ENSP00000461916.2:p.Cys241Ter
ENST00000582991.5:c.723C>A ENSP00000464153.1:p.Cys241Ter
ENST00000582991.6:c.723C>A ENSP00000464153.1:p.Cys241Ter
ENST00000630662.2:c.-259C>A ENSP00000487353.1:n.-259C>A
ENST00000631291.2:c.723C>A ENSP00000486085.1:p.Cys241Ter
ENST00000671841.1:n.2402C>A
ENST00000671878.1:c.723C>A ENSP00000500516.1:p.Cys241Ter
ENST00000672059.1:n.1174C>A
ENST00000672322.1:n.1794C>A
ENST00000672357.1:c.723C>A ENSP00000500092.1:p.Cys241Ter
ENST00000672465.1:c.723C>A ENSP00000500517.1:p.Cys241Ter
ENST00000672487.1:c.680+1213C>A ENSP00000500740.1:n.680+1213C>A
ENST00000672564.1:n.944C>A
ENST00000672567.1:c.614C>A
ENST00000672608.1:n.1712C>A
ENST00000672709.1:c.577C>A
ENST00000673136.1:c.723C>A ENSP00000500380.1:p.Cys241Ter
ENST00000673472.1:n.1059C>A
XM_011523732.1:c.723C>A XP_011522034.1:p.Cys241Ter
XM_011523733.1:c.723C>A XP_011522035.1:p.Cys241Ter
XM_011523733.2:c.723C>A XP_011522035.1:p.Cys241Ter
XM_017024355.1:c.723C>A XP_016879844.1:p.Cys241Ter
XM_017024356.2:c.723C>A XP_016879845.1:p.Cys241Ter
XM_017024357.1:c.723C>A XP_016879846.1:p.Cys241Ter
XM_017024358.2:c.723C>A XP_016879847.1:p.Cys241Ter
XM_024450651.1:c.144C>A XP_024306419.1:p.Cys48Ter
XM_024450652.1:c.144C>A XP_024306420.1:p.Cys48Ter