Canonical Allele Identifier: CA8443057

Gene: ALDH3A2

Linked Data

• ClinVar Variation Id: 1459314
• ClinVar RCV Id: RCV001958936 ; RCV003230721
• dbSNP Id: rs768290318
• ExAC: 17:19575094 G / A
• gnomAD v2: 17-19575094-G-A
• gnomAD v3: 17-19671781-G-A
• gnomAD v4: 17-19671781-G-A
• MyVariant Identifiers: chr17:g.19575094G>A (hg19) ; chr17:g.19671781G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19671781G>A , CM000679.2:g.19671781G>A	GRCh38
NC_000017.10:g.19575094G>A , CM000679.1:g.19575094G>A	GRCh37
NC_000017.9:g.19515686G>A	NCBI36
NG_007095.2:g.28031G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000176643.11:c.1268G>A MANE Select	ENSP00000176643.6:p.Arg423His
ENST00000395575.7:c.941G>A	ENSP00000378942.3:p.Arg314His
ENST00000472059.6:c.*826G>A	ENSP00000458397.1:n.*826G>A
ENST00000571163.2:c.227-3715G>A	ENSP00000459977.2:n.227-3715G>A
ENST00000573947.2:c.68G>A	ENSP00000462933.2:p.Arg23His
ENST00000574078.3:n.597G>A
ENST00000581518.6:c.1268G>A	ENSP00000461916.2:p.Arg423His
ENST00000582991.6:c.1168G>A	ENSP00000464153.1:p.Val390Ile
ENST00000671878.1:c.1268G>A	ENSP00000500516.1:p.Arg423His
ENST00000672059.1:n.1619G>A
ENST00000672357.1:c.1268G>A	ENSP00000500092.1:p.Arg423His
ENST00000672465.1:c.1268G>A	ENSP00000500517.1:p.Arg423His
ENST00000672487.1:c.*448G>A	ENSP00000500740.1:n.*448G>A
ENST00000672564.1:n.2937G>A
ENST00000672567.1:c.1098+6734G>A
ENST00000672591.1:c.328G>A
ENST00000672608.1:n.2257G>A
ENST00000672709.1:c.1122G>A
ENST00000673064.1:n.1768G>A
ENST00000673136.1:c.1208-3715G>A	ENSP00000500380.1:n.1208-3715G>A
ENST00000673472.1:n.1604G>A
ENST00000673516.1:n.1728G>A
ENST00000176643.10:c.1268G>A	ENSP00000176643.6:p.Arg423His
ENST00000339618.8:c.1268G>A	ENSP00000345774.4:p.Arg423His
ENST00000395575.6:c.1268G>A	ENSP00000378942.2:p.Arg423His
ENST00000472059.5:c.*826G>A	ENSP00000458397.1:n.*826G>A
ENST00000476965.5:n.1018G>A
ENST00000571163.1:c.227-3777G>A	ENSP00000459977.1:n.227-3777G>A
ENST00000573947.1:c.175G>A	ENSP00000462933.1:p.Val59Ile
ENST00000575384.2:c.14G>A	ENSP00000461235.2:p.Arg5His
ENST00000579855.5:c.1268G>A	ENSP00000463637.1:p.Arg423His
ENST00000581518.5:c.1268G>A	ENSP00000461916.1:p.Arg423His
ENST00000582991.5:c.1168G>A	ENSP00000464153.1:p.Val390Ile
ENST00000630662.2:c.227-3777G>A	ENSP00000487353.1:n.227-3777G>A
ENST00000631291.2:c.1168G>A	ENSP00000486085.1:p.Val390Ile
NM_000382.2:c.1268G>A	NP_000373.1:p.Arg423His
NM_001031806.1:c.1268G>A	NP_001026976.1:p.Arg423His
XM_011523732.1:c.1268G>A	XP_011522034.1:p.Arg423His
XM_011523733.1:c.1268G>A	XP_011522035.1:p.Arg423His
XM_011523733.2:c.1268G>A	XP_011522035.1:p.Arg423His
XM_017024355.1:c.1208-3777G>A	XP_016879844.1:n.1208-3777G>A
XM_017024356.2:c.1268G>A	XP_016879845.1:p.Arg423His
XM_017024357.1:c.1268G>A	XP_016879846.1:p.Arg423His
XM_017024358.2:c.1208-3777G>A	XP_016879847.1:n.1208-3777G>A
XM_024450651.1:c.689G>A	XP_024306419.1:p.Arg230His
XM_024450652.1:c.689G>A	XP_024306420.1:p.Arg230His
NM_000382.3:c.1268G>A MANE Select	NP_000373.1:p.Arg423His
NM_001031806.2:c.1268G>A	NP_001026976.1:p.Arg423His
NM_001369136.1:c.1268G>A	NP_001356065.1:p.Arg423His
NM_001369137.1:c.1268G>A	NP_001356066.1:p.Arg423His
NM_001369138.1:c.1268G>A	NP_001356067.1:p.Arg423His
NM_001369139.1:c.1268G>A	NP_001356068.1:p.Arg423His
NM_001369146.1:c.1208-3777G>A	NP_001356075.1:n.1208-3777G>A
NM_001369148.1:c.689G>A	NP_001356077.1:p.Arg230His
NM_001369137.2:c.1268G>A	NP_001356066.1:p.Arg423His
NM_001369138.2:c.1268G>A	NP_001356067.1:p.Arg423His
NM_001369146.2:c.1208-3777G>A	NP_001356075.1:n.1208-3777G>A
NM_001369148.2:c.689G>A	NP_001356077.1:p.Arg230His