Canonical Allele Identifier: CA398710729

Gene: ALDH3A2

Linked Data

• MyVariant Identifiers: chr17:g.19575105T>A (hg19) ; chr17:g.19671792T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19671792T>A , CM000679.2:g.19671792T>A	GRCh38
NC_000017.10:g.19575105T>A , CM000679.1:g.19575105T>A	GRCh37
NC_000017.9:g.19515697T>A	NCBI36
NG_007095.2:g.28042T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000176643.11:c.1279T>A MANE Select	ENSP00000176643.6:p.Leu427Ile
ENST00000395575.7:c.952T>A	ENSP00000378942.3:p.Leu318Ile
ENST00000472059.6:c.*837T>A	ENSP00000458397.1:n.*837T>A
ENST00000571163.2:c.227-3704T>A	ENSP00000459977.2:n.227-3704T>A
ENST00000573947.2:c.79T>A	ENSP00000462933.2:p.Leu27Ile
ENST00000574078.3:n.608T>A
ENST00000581518.6:c.1279T>A	ENSP00000461916.2:p.Leu427Ile
ENST00000582991.6:c.1179T>A	ENSP00000464153.1:p.Tyr393Ter
ENST00000671878.1:c.1279T>A	ENSP00000500516.1:p.Leu427Ile
ENST00000672059.1:n.1630T>A
ENST00000672357.1:c.1279T>A	ENSP00000500092.1:p.Leu427Ile
ENST00000672465.1:c.1279T>A	ENSP00000500517.1:p.Leu427Ile
ENST00000672487.1:c.*459T>A	ENSP00000500740.1:n.*459T>A
ENST00000672564.1:n.2948T>A
ENST00000672567.1:c.1098+6745T>A
ENST00000672591.1:c.339T>A
ENST00000672608.1:n.2268T>A
ENST00000672709.1:c.1133T>A
ENST00000673064.1:n.1779T>A
ENST00000673136.1:c.1208-3704T>A	ENSP00000500380.1:n.1208-3704T>A
ENST00000673472.1:n.1615T>A
ENST00000673516.1:n.1739T>A
ENST00000176643.10:c.1279T>A	ENSP00000176643.6:p.Leu427Ile
ENST00000339618.8:c.1279T>A	ENSP00000345774.4:p.Leu427Ile
ENST00000395575.6:c.1279T>A	ENSP00000378942.2:p.Leu427Ile
ENST00000472059.5:c.*837T>A	ENSP00000458397.1:n.*837T>A
ENST00000476965.5:n.1029T>A
ENST00000571163.1:c.227-3766T>A	ENSP00000459977.1:n.227-3766T>A
ENST00000573947.1:c.186T>A	ENSP00000462933.1:p.Tyr62Ter
ENST00000575384.2:c.25T>A	ENSP00000461235.2:p.Leu9Ile
ENST00000579855.5:c.1279T>A	ENSP00000463637.1:p.Leu427Ile
ENST00000581518.5:c.1279T>A	ENSP00000461916.1:p.Leu427Ile
ENST00000582991.5:c.1179T>A	ENSP00000464153.1:p.Tyr393Ter
ENST00000630662.2:c.227-3766T>A	ENSP00000487353.1:n.227-3766T>A
ENST00000631291.2:c.1179T>A	ENSP00000486085.1:p.Tyr393Ter
NM_000382.2:c.1279T>A	NP_000373.1:p.Leu427Ile
NM_001031806.1:c.1279T>A	NP_001026976.1:p.Leu427Ile
XM_011523732.1:c.1279T>A	XP_011522034.1:p.Leu427Ile
XM_011523733.1:c.1279T>A	XP_011522035.1:p.Leu427Ile
XM_011523733.2:c.1279T>A	XP_011522035.1:p.Leu427Ile
XM_017024355.1:c.1208-3766T>A	XP_016879844.1:n.1208-3766T>A
XM_017024356.2:c.1279T>A	XP_016879845.1:p.Leu427Ile
XM_017024357.1:c.1279T>A	XP_016879846.1:p.Leu427Ile
XM_017024358.2:c.1208-3766T>A	XP_016879847.1:n.1208-3766T>A
XM_024450651.1:c.700T>A	XP_024306419.1:p.Leu234Ile
XM_024450652.1:c.700T>A	XP_024306420.1:p.Leu234Ile
NM_000382.3:c.1279T>A MANE Select	NP_000373.1:p.Leu427Ile
NM_001031806.2:c.1279T>A	NP_001026976.1:p.Leu427Ile
NM_001369136.1:c.1279T>A	NP_001356065.1:p.Leu427Ile
NM_001369137.1:c.1279T>A	NP_001356066.1:p.Leu427Ile
NM_001369138.1:c.1279T>A	NP_001356067.1:p.Leu427Ile
NM_001369139.1:c.1279T>A	NP_001356068.1:p.Leu427Ile
NM_001369146.1:c.1208-3766T>A	NP_001356075.1:n.1208-3766T>A
NM_001369148.1:c.700T>A	NP_001356077.1:p.Leu234Ile
NM_001369137.2:c.1279T>A	NP_001356066.1:p.Leu427Ile
NM_001369138.2:c.1279T>A	NP_001356067.1:p.Leu427Ile
NM_001369146.2:c.1208-3766T>A	NP_001356075.1:n.1208-3766T>A
NM_001369148.2:c.700T>A	NP_001356077.1:p.Leu234Ile