Canonical Allele Identifier: CA498617168

Gene: ALDH3A2

Linked Data

• ClinVar Variation Id: 2743453
• ClinVar RCV Id: RCV003560395
• gnomAD v4: 17-19661231-T-G
• MyVariant Identifiers: chr17:g.19564544T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19661231T>G , CM000679.2:g.19661231T>G	GRCh38
NC_000017.10:g.19564544T>G , CM000679.1:g.19564544T>G	GRCh37
NC_000017.9:g.19505136T>G	NCBI36
NG_007095.2:g.17481T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000176643.11:c.903T>G MANE Select	ENSP00000176643.6:p.Ala301=
ENST00000395575.7:c.576T>G	ENSP00000378942.3:p.Ala192=
ENST00000472059.6:c.*461T>G	ENSP00000458397.1:n.*461T>G
ENST00000574078.3:n.232T>G
ENST00000581518.6:c.903T>G	ENSP00000461916.2:p.Ala301=
ENST00000582991.6:c.903T>G	ENSP00000464153.1:p.Ala301=
ENST00000671841.1:n.2582T>G
ENST00000671878.1:c.903T>G	ENSP00000500516.1:p.Ala301=
ENST00000672059.1:n.1354T>G
ENST00000672357.1:c.903T>G	ENSP00000500092.1:p.Ala301=
ENST00000672465.1:c.903T>G	ENSP00000500517.1:p.Ala301=
ENST00000672487.1:c.*83T>G	ENSP00000500740.1:n.*83T>G
ENST00000672564.1:n.1124T>G
ENST00000672567.1:c.794T>G
ENST00000672608.1:n.1892T>G
ENST00000672709.1:c.757T>G
ENST00000673064.1:n.1403T>G
ENST00000673136.1:c.903T>G	ENSP00000500380.1:p.Ala301=
ENST00000673472.1:n.1239T>G
ENST00000673516.1:n.1363T>G
ENST00000176643.10:c.903T>G	ENSP00000176643.6:p.Ala301=
ENST00000339618.8:c.903T>G	ENSP00000345774.4:p.Ala301=
ENST00000395575.6:c.903T>G	ENSP00000378942.2:p.Ala301=
ENST00000472059.5:c.*461T>G	ENSP00000458397.1:n.*461T>G
ENST00000476965.5:n.653T>G
ENST00000571537.1:c.396T>G	ENSP00000458942.1:p.Ala132=
ENST00000574078.2:n.232T>G
ENST00000578696.1:c.334T>G
ENST00000579855.5:c.903T>G	ENSP00000463637.1:p.Ala301=
ENST00000581518.5:c.903T>G	ENSP00000461916.1:p.Ala301=
ENST00000582991.5:c.903T>G	ENSP00000464153.1:p.Ala301=
ENST00000630662.2:c.-79T>G	ENSP00000487353.1:n.-79T>G
ENST00000631291.2:c.903T>G	ENSP00000486085.1:p.Ala301=
NM_000382.2:c.903T>G	NP_000373.1:p.Ala301=
NM_001031806.1:c.903T>G	NP_001026976.1:p.Ala301=
XM_011523732.1:c.903T>G	XP_011522034.1:p.Ala301=
XM_011523733.1:c.903T>G	XP_011522035.1:p.Ala301=
XM_011523733.2:c.903T>G	XP_011522035.1:p.Ala301=
XM_017024355.1:c.903T>G	XP_016879844.1:p.Ala301=
XM_017024356.2:c.903T>G	XP_016879845.1:p.Ala301=
XM_017024357.1:c.903T>G	XP_016879846.1:p.Ala301=
XM_017024358.2:c.903T>G	XP_016879847.1:p.Ala301=
XM_024450651.1:c.324T>G	XP_024306419.1:p.Ala108=
XM_024450652.1:c.324T>G	XP_024306420.1:p.Ala108=
NM_000382.3:c.903T>G MANE Select	NP_000373.1:p.Ala301=
NM_001031806.2:c.903T>G	NP_001026976.1:p.Ala301=
NM_001369136.1:c.903T>G	NP_001356065.1:p.Ala301=
NM_001369137.1:c.903T>G	NP_001356066.1:p.Ala301=
NM_001369138.1:c.903T>G	NP_001356067.1:p.Ala301=
NM_001369139.1:c.903T>G	NP_001356068.1:p.Ala301=
NM_001369146.1:c.903T>G	NP_001356075.1:p.Ala301=
NM_001369148.1:c.324T>G	NP_001356077.1:p.Ala108=
NM_001369137.2:c.903T>G	NP_001356066.1:p.Ala301=
NM_001369138.2:c.903T>G	NP_001356067.1:p.Ala301=
NM_001369146.2:c.903T>G	NP_001356075.1:p.Ala301=
NM_001369148.2:c.324T>G	NP_001356077.1:p.Ala108=