Canonical Allele Identifier: CA398706746

Gene: ALDH3A2

Linked Data

• ClinVar Variation Id: 2072142
• ClinVar RCV Id: RCV002962681
• gnomAD v4: 17-19657768-T-C
• MyVariant Identifiers: chr17:g.19561081T>C (hg19) ; chr17:g.19657768T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19657768T>C , CM000679.2:g.19657768T>C	GRCh38
NC_000017.10:g.19561081T>C , CM000679.1:g.19561081T>C	GRCh37
NC_000017.9:g.19501673T>C	NCBI36
NG_007095.2:g.14018T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000176643.11:c.704T>C MANE Select	ENSP00000176643.6:p.Met235Thr
ENST00000395575.7:c.472-3359T>C	ENSP00000378942.3:n.472-3359T>C
ENST00000472059.6:c.*262T>C	ENSP00000458397.1:n.*262T>C
ENST00000581518.6:c.704T>C	ENSP00000461916.2:p.Met235Thr
ENST00000582991.6:c.704T>C	ENSP00000464153.1:p.Met235Thr
ENST00000671841.1:n.2383T>C
ENST00000671878.1:c.704T>C	ENSP00000500516.1:p.Met235Thr
ENST00000672059.1:n.1155T>C
ENST00000672322.1:n.1775T>C
ENST00000672357.1:c.704T>C	ENSP00000500092.1:p.Met235Thr
ENST00000672465.1:c.704T>C	ENSP00000500517.1:p.Met235Thr
ENST00000672487.1:c.680+1194T>C	ENSP00000500740.1:n.680+1194T>C
ENST00000672564.1:n.925T>C
ENST00000672567.1:c.595T>C
ENST00000672608.1:n.1693T>C
ENST00000672709.1:c.558T>C
ENST00000673136.1:c.704T>C	ENSP00000500380.1:p.Met235Thr
ENST00000673472.1:n.1040T>C
ENST00000176643.10:c.704T>C	ENSP00000176643.6:p.Met235Thr
ENST00000339618.8:c.704T>C	ENSP00000345774.4:p.Met235Thr
ENST00000395575.6:c.704T>C	ENSP00000378942.2:p.Met235Thr
ENST00000472059.5:c.*262T>C	ENSP00000458397.1:n.*262T>C
ENST00000476965.5:n.454T>C
ENST00000571537.1:c.197T>C	ENSP00000458942.1:p.Met66Thr
ENST00000578696.1:c.135T>C
ENST00000579855.5:c.704T>C	ENSP00000463637.1:p.Met235Thr
ENST00000581518.5:c.704T>C	ENSP00000461916.1:p.Met235Thr
ENST00000582991.5:c.704T>C	ENSP00000464153.1:p.Met235Thr
ENST00000630662.2:c.-278T>C	ENSP00000487353.1:n.-278T>C
ENST00000631291.2:c.704T>C	ENSP00000486085.1:p.Met235Thr
NM_000382.2:c.704T>C	NP_000373.1:p.Met235Thr
NM_001031806.1:c.704T>C	NP_001026976.1:p.Met235Thr
XM_011523732.1:c.704T>C	XP_011522034.1:p.Met235Thr
XM_011523733.1:c.704T>C	XP_011522035.1:p.Met235Thr
XM_011523733.2:c.704T>C	XP_011522035.1:p.Met235Thr
XM_017024355.1:c.704T>C	XP_016879844.1:p.Met235Thr
XM_017024356.2:c.704T>C	XP_016879845.1:p.Met235Thr
XM_017024357.1:c.704T>C	XP_016879846.1:p.Met235Thr
XM_017024358.2:c.704T>C	XP_016879847.1:p.Met235Thr
XM_024450651.1:c.125T>C	XP_024306419.1:p.Met42Thr
XM_024450652.1:c.125T>C	XP_024306420.1:p.Met42Thr
NM_000382.3:c.704T>C MANE Select	NP_000373.1:p.Met235Thr
NM_001031806.2:c.704T>C	NP_001026976.1:p.Met235Thr
NM_001369136.1:c.704T>C	NP_001356065.1:p.Met235Thr
NM_001369137.1:c.704T>C	NP_001356066.1:p.Met235Thr
NM_001369138.1:c.704T>C	NP_001356067.1:p.Met235Thr
NM_001369139.1:c.704T>C	NP_001356068.1:p.Met235Thr
NM_001369146.1:c.704T>C	NP_001356075.1:p.Met235Thr
NM_001369148.1:c.125T>C	NP_001356077.1:p.Met42Thr
NM_001369137.2:c.704T>C	NP_001356066.1:p.Met235Thr
NM_001369138.2:c.704T>C	NP_001356067.1:p.Met235Thr
NM_001369146.2:c.704T>C	NP_001356075.1:p.Met235Thr
NM_001369148.2:c.125T>C	NP_001356077.1:p.Met42Thr