Canonical Allele Identifier: CA398710921

Gene: ALDH3A2

Linked Data

• MyVariant Identifiers: chr17:g.19575186T>C (hg19) ; chr17:g.19671873T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19671873T>C , CM000679.2:g.19671873T>C	GRCh38
NC_000017.10:g.19575186T>C , CM000679.1:g.19575186T>C	GRCh37
NC_000017.9:g.19515778T>C	NCBI36
NG_007095.2:g.28123T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000176643.11:c.1360T>C MANE Select	ENSP00000176643.6:p.Phe454Leu
ENST00000395575.7:c.1033T>C	ENSP00000378942.3:p.Phe345Leu
ENST00000472059.6:c.*918T>C	ENSP00000458397.1:n.*918T>C
ENST00000571163.2:c.227-3623T>C	ENSP00000459977.2:n.227-3623T>C
ENST00000573947.2:c.160T>C	ENSP00000462933.2:p.Phe54Leu
ENST00000574078.3:n.689T>C
ENST00000581518.6:c.1360T>C	ENSP00000461916.2:p.Phe454Leu
ENST00000582991.6:c.*78T>C	ENSP00000464153.1:n.*78T>C
ENST00000671878.1:c.1360T>C	ENSP00000500516.1:p.Phe454Leu
ENST00000672059.1:n.1711T>C
ENST00000672357.1:c.1360T>C	ENSP00000500092.1:p.Phe454Leu
ENST00000672465.1:c.1360T>C	ENSP00000500517.1:p.Phe454Leu
ENST00000672487.1:c.*540T>C	ENSP00000500740.1:n.*540T>C
ENST00000672564.1:n.3029T>C
ENST00000672567.1:c.1098+6826T>C
ENST00000672591.1:c.420T>C
ENST00000672608.1:n.2349T>C
ENST00000672709.1:c.1214T>C
ENST00000673064.1:n.1860T>C
ENST00000673136.1:c.1208-3623T>C	ENSP00000500380.1:n.1208-3623T>C
ENST00000673472.1:n.1696T>C
ENST00000673516.1:n.1820T>C
ENST00000176643.10:c.1360T>C	ENSP00000176643.6:p.Phe454Leu
ENST00000339618.8:c.1360T>C	ENSP00000345774.4:p.Phe454Leu
ENST00000395575.6:c.1360T>C	ENSP00000378942.2:p.Phe454Leu
ENST00000472059.5:c.*918T>C	ENSP00000458397.1:n.*918T>C
ENST00000476965.5:n.1110T>C
ENST00000571163.1:c.227-3685T>C	ENSP00000459977.1:n.227-3685T>C
ENST00000573565.1:c.75T>C
ENST00000573947.1:c.267T>C	ENSP00000462933.1:n.267T>C
ENST00000575384.2:c.106T>C	ENSP00000461235.2:p.Phe36Leu
ENST00000579855.5:c.1360T>C	ENSP00000463637.1:p.Phe454Leu
ENST00000581518.5:c.1360T>C	ENSP00000461916.1:p.Phe454Leu
ENST00000582991.5:c.*78T>C	ENSP00000464153.1:n.*78T>C
ENST00000630662.2:c.227-3685T>C	ENSP00000487353.1:n.227-3685T>C
ENST00000631291.2:c.*78T>C	ENSP00000486085.1:n.*78T>C
NM_000382.2:c.1360T>C	NP_000373.1:p.Phe454Leu
NM_001031806.1:c.1360T>C	NP_001026976.1:p.Phe454Leu
XM_011523732.1:c.1360T>C	XP_011522034.1:p.Phe454Leu
XM_011523733.1:c.1360T>C	XP_011522035.1:p.Phe454Leu
XM_011523733.2:c.1360T>C	XP_011522035.1:p.Phe454Leu
XM_017024355.1:c.1208-3685T>C	XP_016879844.1:n.1208-3685T>C
XM_017024356.2:c.1360T>C	XP_016879845.1:p.Phe454Leu
XM_017024357.1:c.1360T>C	XP_016879846.1:p.Phe454Leu
XM_017024358.2:c.1208-3685T>C	XP_016879847.1:n.1208-3685T>C
XM_024450651.1:c.781T>C	XP_024306419.1:p.Phe261Leu
XM_024450652.1:c.781T>C	XP_024306420.1:p.Phe261Leu
NM_000382.3:c.1360T>C MANE Select	NP_000373.1:p.Phe454Leu
NM_001031806.2:c.1360T>C	NP_001026976.1:p.Phe454Leu
NM_001369136.1:c.1360T>C	NP_001356065.1:p.Phe454Leu
NM_001369137.1:c.1360T>C	NP_001356066.1:p.Phe454Leu
NM_001369138.1:c.1360T>C	NP_001356067.1:p.Phe454Leu
NM_001369139.1:c.1360T>C	NP_001356068.1:p.Phe454Leu
NM_001369146.1:c.1208-3685T>C	NP_001356075.1:n.1208-3685T>C
NM_001369148.1:c.781T>C	NP_001356077.1:p.Phe261Leu
NM_001369137.2:c.1360T>C	NP_001356066.1:p.Phe454Leu
NM_001369138.2:c.1360T>C	NP_001356067.1:p.Phe454Leu
NM_001369146.2:c.1208-3685T>C	NP_001356075.1:n.1208-3685T>C
NM_001369148.2:c.781T>C	NP_001356077.1:p.Phe261Leu