Canonical Allele Identifier: CA8442853

Gene: ALDH3A2

Linked Data

• ClinVar Variation Id: 322211
• ClinVar RCV Id: RCV000262843
• dbSNP Id: rs772457181
• ExAC: 17:19559773 T / C
• gnomAD v2: 17-19559773-T-C
• gnomAD v3: 17-19656460-T-C
• gnomAD v4: 17-19656460-T-C
• MyVariant Identifiers: chr17:g.19559773T>C (hg19) ; chr17:g.19656460T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19656460T>C , CM000679.2:g.19656460T>C	GRCh38
NC_000017.10:g.19559773T>C , CM000679.1:g.19559773T>C	GRCh37
NC_000017.9:g.19500365T>C	NCBI36
NG_007095.2:g.12710T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000176643.11:c.566T>C MANE Select	ENSP00000176643.6:p.Val189Ala
ENST00000395575.7:c.471+3828T>C	ENSP00000378942.3:n.471+3828T>C
ENST00000472059.6:c.*124T>C	ENSP00000458397.1:n.*124T>C
ENST00000581518.6:c.566T>C	ENSP00000461916.2:p.Val189Ala
ENST00000582991.6:c.566T>C	ENSP00000464153.1:p.Val189Ala
ENST00000671841.1:n.1075T>C
ENST00000671878.1:c.566T>C	ENSP00000500516.1:p.Val189Ala
ENST00000672059.1:n.1017T>C
ENST00000672322.1:n.1637T>C
ENST00000672357.1:c.566T>C	ENSP00000500092.1:p.Val189Ala
ENST00000672465.1:c.566T>C	ENSP00000500517.1:p.Val189Ala
ENST00000672487.1:c.566T>C	ENSP00000500740.1:p.Val189Ala
ENST00000672564.1:n.787T>C
ENST00000672567.1:c.457T>C
ENST00000672608.1:n.1555T>C
ENST00000672709.1:c.420T>C
ENST00000673136.1:c.566T>C	ENSP00000500380.1:p.Val189Ala
ENST00000673472.1:n.902T>C
ENST00000176643.10:c.566T>C	ENSP00000176643.6:p.Val189Ala
ENST00000339618.8:c.566T>C	ENSP00000345774.4:p.Val189Ala
ENST00000395575.6:c.566T>C	ENSP00000378942.2:p.Val189Ala
ENST00000472059.5:c.*124T>C	ENSP00000458397.1:n.*124T>C
ENST00000476965.5:n.316T>C
ENST00000571537.1:c.59T>C	ENSP00000458942.1:p.Val20Ala
ENST00000579855.5:c.566T>C	ENSP00000463637.1:p.Val189Ala
ENST00000581518.5:c.566T>C	ENSP00000461916.1:p.Val189Ala
ENST00000582991.5:c.566T>C	ENSP00000464153.1:p.Val189Ala
ENST00000630662.2:c.-416T>C	ENSP00000487353.1:n.-416T>C
ENST00000631291.2:c.566T>C	ENSP00000486085.1:p.Val189Ala
NM_000382.2:c.566T>C	NP_000373.1:p.Val189Ala
NM_001031806.1:c.566T>C	NP_001026976.1:p.Val189Ala
XM_011523732.1:c.566T>C	XP_011522034.1:p.Val189Ala
XM_011523733.1:c.566T>C	XP_011522035.1:p.Val189Ala
XM_011523733.2:c.566T>C	XP_011522035.1:p.Val189Ala
XM_017024355.1:c.566T>C	XP_016879844.1:p.Val189Ala
XM_017024356.2:c.566T>C	XP_016879845.1:p.Val189Ala
XM_017024357.1:c.566T>C	XP_016879846.1:p.Val189Ala
XM_017024358.2:c.566T>C	XP_016879847.1:p.Val189Ala
XM_024450651.1:c.-14T>C	XP_024306419.1:n.-14T>C
XM_024450652.1:c.-14T>C	XP_024306420.1:n.-14T>C
NM_000382.3:c.566T>C MANE Select	NP_000373.1:p.Val189Ala
NM_001031806.2:c.566T>C	NP_001026976.1:p.Val189Ala
NM_001369136.1:c.566T>C	NP_001356065.1:p.Val189Ala
NM_001369137.1:c.566T>C	NP_001356066.1:p.Val189Ala
NM_001369138.1:c.566T>C	NP_001356067.1:p.Val189Ala
NM_001369139.1:c.566T>C	NP_001356068.1:p.Val189Ala
NM_001369146.1:c.566T>C	NP_001356075.1:p.Val189Ala
NM_001369148.1:c.-14T>C	NP_001356077.1:n.-14T>C
NM_001369137.2:c.566T>C	NP_001356066.1:p.Val189Ala
NM_001369138.2:c.566T>C	NP_001356067.1:p.Val189Ala
NM_001369146.2:c.566T>C	NP_001356075.1:p.Val189Ala
NM_001369148.2:c.-14T>C	NP_001356077.1:n.-14T>C