Canonical Allele Identifier: CA498617234

Gene: ALDH3A2

Linked Data

• ClinVar Variation Id: 1088014
• ClinVar RCV Id: RCV001406306
• dbSNP Id: rs2152330009
• MyVariant Identifiers: chr17:g.19564562T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19661249T>C , CM000679.2:g.19661249T>C	GRCh38
NC_000017.10:g.19564562T>C , CM000679.1:g.19564562T>C	GRCh37
NC_000017.9:g.19505154T>C	NCBI36
NG_007095.2:g.17499T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000176643.11:c.921T>C MANE Select	ENSP00000176643.6:p.Asp307=
ENST00000395575.7:c.594T>C	ENSP00000378942.3:p.Asp198=
ENST00000472059.6:c.*479T>C	ENSP00000458397.1:n.*479T>C
ENST00000574078.3:n.250T>C
ENST00000581518.6:c.921T>C	ENSP00000461916.2:p.Asp307=
ENST00000582991.6:c.921T>C	ENSP00000464153.1:p.Asp307=
ENST00000671841.1:n.2600T>C
ENST00000671878.1:c.921T>C	ENSP00000500516.1:p.Asp307=
ENST00000672059.1:n.1372T>C
ENST00000672357.1:c.921T>C	ENSP00000500092.1:p.Asp307=
ENST00000672465.1:c.921T>C	ENSP00000500517.1:p.Asp307=
ENST00000672487.1:c.*101T>C	ENSP00000500740.1:n.*101T>C
ENST00000672564.1:n.1142T>C
ENST00000672567.1:c.812T>C
ENST00000672608.1:n.1910T>C
ENST00000672709.1:c.775T>C
ENST00000673064.1:n.1421T>C
ENST00000673136.1:c.921T>C	ENSP00000500380.1:p.Asp307=
ENST00000673472.1:n.1257T>C
ENST00000673516.1:n.1381T>C
ENST00000176643.10:c.921T>C	ENSP00000176643.6:p.Asp307=
ENST00000339618.8:c.921T>C	ENSP00000345774.4:p.Asp307=
ENST00000395575.6:c.921T>C	ENSP00000378942.2:p.Asp307=
ENST00000472059.5:c.*479T>C	ENSP00000458397.1:n.*479T>C
ENST00000476965.5:n.671T>C
ENST00000571537.1:c.414T>C	ENSP00000458942.1:p.Asp138=
ENST00000574078.2:n.250T>C
ENST00000578696.1:c.352T>C
ENST00000579855.5:c.921T>C	ENSP00000463637.1:p.Asp307=
ENST00000581518.5:c.921T>C	ENSP00000461916.1:p.Asp307=
ENST00000582991.5:c.921T>C	ENSP00000464153.1:p.Asp307=
ENST00000630662.2:c.-61T>C	ENSP00000487353.1:n.-61T>C
ENST00000631291.2:c.921T>C	ENSP00000486085.1:p.Asp307=
NM_000382.2:c.921T>C	NP_000373.1:p.Asp307=
NM_001031806.1:c.921T>C	NP_001026976.1:p.Asp307=
XM_011523732.1:c.921T>C	XP_011522034.1:p.Asp307=
XM_011523733.1:c.921T>C	XP_011522035.1:p.Asp307=
XM_011523733.2:c.921T>C	XP_011522035.1:p.Asp307=
XM_017024355.1:c.921T>C	XP_016879844.1:p.Asp307=
XM_017024356.2:c.921T>C	XP_016879845.1:p.Asp307=
XM_017024357.1:c.921T>C	XP_016879846.1:p.Asp307=
XM_017024358.2:c.921T>C	XP_016879847.1:p.Asp307=
XM_024450651.1:c.342T>C	XP_024306419.1:p.Asp114=
XM_024450652.1:c.342T>C	XP_024306420.1:p.Asp114=
NM_000382.3:c.921T>C MANE Select	NP_000373.1:p.Asp307=
NM_001031806.2:c.921T>C	NP_001026976.1:p.Asp307=
NM_001369136.1:c.921T>C	NP_001356065.1:p.Asp307=
NM_001369137.1:c.921T>C	NP_001356066.1:p.Asp307=
NM_001369138.1:c.921T>C	NP_001356067.1:p.Asp307=
NM_001369139.1:c.921T>C	NP_001356068.1:p.Asp307=
NM_001369146.1:c.921T>C	NP_001356075.1:p.Asp307=
NM_001369148.1:c.342T>C	NP_001356077.1:p.Asp114=
NM_001369137.2:c.921T>C	NP_001356066.1:p.Asp307=
NM_001369138.2:c.921T>C	NP_001356067.1:p.Asp307=
NM_001369146.2:c.921T>C	NP_001356075.1:p.Asp307=
NM_001369148.2:c.342T>C	NP_001356077.1:p.Asp114=