Canonical Allele Identifier: CA288550117

Gene: ALDH3A2

Linked Data

• ClinVar Variation Id: 1097500
• ClinVar RCV Id: RCV001419107
• dbSNP Id: rs992796190
• gnomAD v2: 17-19564490-C-A
• gnomAD v4: 17-19661177-C-A
• MyVariant Identifiers: chr17:g.19564490C>A (hg19) ; chr17:g.19661177C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19661177C>A , CM000679.2:g.19661177C>A	GRCh38
NC_000017.10:g.19564490C>A , CM000679.1:g.19564490C>A	GRCh37
NC_000017.9:g.19505082C>A	NCBI36
NG_007095.2:g.17427C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000176643.11:c.849C>A MANE Select	ENSP00000176643.6:p.Ile283=
ENST00000395575.7:c.522C>A	ENSP00000378942.3:p.Ile174=
ENST00000472059.6:c.*407C>A	ENSP00000458397.1:n.*407C>A
ENST00000574078.3:n.178C>A
ENST00000581518.6:c.849C>A	ENSP00000461916.2:p.Ile283=
ENST00000582991.6:c.849C>A	ENSP00000464153.1:p.Ile283=
ENST00000671841.1:n.2528C>A
ENST00000671878.1:c.849C>A	ENSP00000500516.1:p.Ile283=
ENST00000672059.1:n.1300C>A
ENST00000672357.1:c.849C>A	ENSP00000500092.1:p.Ile283=
ENST00000672465.1:c.849C>A	ENSP00000500517.1:p.Ile283=
ENST00000672487.1:c.*29C>A	ENSP00000500740.1:n.*29C>A
ENST00000672564.1:n.1070C>A
ENST00000672567.1:c.740C>A
ENST00000672608.1:n.1838C>A
ENST00000672709.1:c.703C>A
ENST00000673064.1:n.1349C>A
ENST00000673136.1:c.849C>A	ENSP00000500380.1:p.Ile283=
ENST00000673472.1:n.1185C>A
ENST00000673516.1:n.1309C>A
ENST00000176643.10:c.849C>A	ENSP00000176643.6:p.Ile283=
ENST00000339618.8:c.849C>A	ENSP00000345774.4:p.Ile283=
ENST00000395575.6:c.849C>A	ENSP00000378942.2:p.Ile283=
ENST00000472059.5:c.*407C>A	ENSP00000458397.1:n.*407C>A
ENST00000476965.5:n.599C>A
ENST00000571537.1:c.342C>A	ENSP00000458942.1:p.Ile114=
ENST00000574078.2:n.178C>A
ENST00000578696.1:c.280C>A
ENST00000579855.5:c.849C>A	ENSP00000463637.1:p.Ile283=
ENST00000581518.5:c.849C>A	ENSP00000461916.1:p.Ile283=
ENST00000582991.5:c.849C>A	ENSP00000464153.1:p.Ile283=
ENST00000630662.2:c.-133C>A	ENSP00000487353.1:n.-133C>A
ENST00000631291.2:c.849C>A	ENSP00000486085.1:p.Ile283=
NM_000382.2:c.849C>A	NP_000373.1:p.Ile283=
NM_001031806.1:c.849C>A	NP_001026976.1:p.Ile283=
XM_011523732.1:c.849C>A	XP_011522034.1:p.Ile283=
XM_011523733.1:c.849C>A	XP_011522035.1:p.Ile283=
XM_011523733.2:c.849C>A	XP_011522035.1:p.Ile283=
XM_017024355.1:c.849C>A	XP_016879844.1:p.Ile283=
XM_017024356.2:c.849C>A	XP_016879845.1:p.Ile283=
XM_017024357.1:c.849C>A	XP_016879846.1:p.Ile283=
XM_017024358.2:c.849C>A	XP_016879847.1:p.Ile283=
XM_024450651.1:c.270C>A	XP_024306419.1:p.Ile90=
XM_024450652.1:c.270C>A	XP_024306420.1:p.Ile90=
NM_000382.3:c.849C>A MANE Select	NP_000373.1:p.Ile283=
NM_001031806.2:c.849C>A	NP_001026976.1:p.Ile283=
NM_001369136.1:c.849C>A	NP_001356065.1:p.Ile283=
NM_001369137.1:c.849C>A	NP_001356066.1:p.Ile283=
NM_001369138.1:c.849C>A	NP_001356067.1:p.Ile283=
NM_001369139.1:c.849C>A	NP_001356068.1:p.Ile283=
NM_001369146.1:c.849C>A	NP_001356075.1:p.Ile283=
NM_001369148.1:c.270C>A	NP_001356077.1:p.Ile90=
NM_001369137.2:c.849C>A	NP_001356066.1:p.Ile283=
NM_001369138.2:c.849C>A	NP_001356067.1:p.Ile283=
NM_001369146.2:c.849C>A	NP_001356075.1:p.Ile283=
NM_001369148.2:c.270C>A	NP_001356077.1:p.Ile90=