Canonical Allele Identifier: CA398710636
Gene: ALDH3A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.19671757G>T , CM000679.2:g.19671757G>T GRCh38
NC_000017.10:g.19575070G>T , CM000679.1:g.19575070G>T GRCh37
NC_000017.9:g.19515662G>T NCBI36
NG_007095.2:g.28007G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000176643.11:c.1244G>T MANE Select ENSP00000176643.6:p.Ser415Ile
ENST00000395575.7:c.917G>T ENSP00000378942.3:p.Ser306Ile
ENST00000472059.6:c.*802G>T ENSP00000458397.1:n.*802G>T
ENST00000571163.2:c.227-3739G>T ENSP00000459977.2:n.227-3739G>T
ENST00000573947.2:c.44G>T ENSP00000462933.2:p.Ser15Ile
ENST00000574078.3:n.573G>T
ENST00000581518.6:c.1244G>T ENSP00000461916.2:p.Ser415Ile
ENST00000582991.6:c.1144G>T ENSP00000464153.1:p.Val382Phe
ENST00000671878.1:c.1244G>T ENSP00000500516.1:p.Ser415Ile
ENST00000672059.1:n.1595G>T
ENST00000672357.1:c.1244G>T ENSP00000500092.1:p.Ser415Ile
ENST00000672465.1:c.1244G>T ENSP00000500517.1:p.Ser415Ile
ENST00000672487.1:c.*424G>T ENSP00000500740.1:n.*424G>T
ENST00000672564.1:n.2913G>T
ENST00000672567.1:c.1098+6710G>T
ENST00000672591.1:c.304G>T
ENST00000672608.1:n.2233G>T
ENST00000672709.1:c.1098G>T
ENST00000673064.1:n.1744G>T
ENST00000673136.1:c.1208-3739G>T ENSP00000500380.1:n.1208-3739G>T
ENST00000673472.1:n.1580G>T
ENST00000673516.1:n.1704G>T
ENST00000176643.10:c.1244G>T ENSP00000176643.6:p.Ser415Ile
ENST00000339618.8:c.1244G>T ENSP00000345774.4:p.Ser415Ile
ENST00000395575.6:c.1244G>T ENSP00000378942.2:p.Ser415Ile
ENST00000472059.5:c.*802G>T ENSP00000458397.1:n.*802G>T
ENST00000476965.5:n.994G>T
ENST00000571163.1:c.227-3801G>T ENSP00000459977.1:n.227-3801G>T
ENST00000573947.1:c.151G>T ENSP00000462933.1:p.Val51Phe
ENST00000579855.5:c.1244G>T ENSP00000463637.1:p.Ser415Ile
ENST00000581518.5:c.1244G>T ENSP00000461916.1:p.Ser415Ile
ENST00000582991.5:c.1144G>T ENSP00000464153.1:p.Val382Phe
ENST00000630662.2:c.227-3801G>T ENSP00000487353.1:n.227-3801G>T
ENST00000631291.2:c.1144G>T ENSP00000486085.1:p.Val382Phe
NM_000382.2:c.1244G>T NP_000373.1:p.Ser415Ile
NM_001031806.1:c.1244G>T NP_001026976.1:p.Ser415Ile
XM_011523732.1:c.1244G>T XP_011522034.1:p.Ser415Ile
XM_011523733.1:c.1244G>T XP_011522035.1:p.Ser415Ile
XM_011523733.2:c.1244G>T XP_011522035.1:p.Ser415Ile
XM_017024355.1:c.1208-3801G>T XP_016879844.1:n.1208-3801G>T
XM_017024356.2:c.1244G>T XP_016879845.1:p.Ser415Ile
XM_017024357.1:c.1244G>T XP_016879846.1:p.Ser415Ile
XM_017024358.2:c.1208-3801G>T XP_016879847.1:n.1208-3801G>T
XM_024450651.1:c.665G>T XP_024306419.1:p.Ser222Ile
XM_024450652.1:c.665G>T XP_024306420.1:p.Ser222Ile
NM_000382.3:c.1244G>T MANE Select NP_000373.1:p.Ser415Ile
NM_001031806.2:c.1244G>T NP_001026976.1:p.Ser415Ile
NM_001369136.1:c.1244G>T NP_001356065.1:p.Ser415Ile
NM_001369137.1:c.1244G>T NP_001356066.1:p.Ser415Ile
NM_001369138.1:c.1244G>T NP_001356067.1:p.Ser415Ile
NM_001369139.1:c.1244G>T NP_001356068.1:p.Ser415Ile
NM_001369146.1:c.1208-3801G>T NP_001356075.1:n.1208-3801G>T
NM_001369148.1:c.665G>T NP_001356077.1:p.Ser222Ile
NM_001369137.2:c.1244G>T NP_001356066.1:p.Ser415Ile
NM_001369138.2:c.1244G>T NP_001356067.1:p.Ser415Ile
NM_001369146.2:c.1208-3801G>T NP_001356075.1:n.1208-3801G>T
NM_001369148.2:c.665G>T NP_001356077.1:p.Ser222Ile