Canonical Allele Identifier: CA498617079
Gene: ALDH3A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.19564521T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.19661208T>C , CM000679.2:g.19661208T>C GRCh38
NC_000017.10:g.19564521T>C , CM000679.1:g.19564521T>C GRCh37
NC_000017.9:g.19505113T>C NCBI36
NG_007095.2:g.17458T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000176643.11:c.880T>C MANE Select ENSP00000176643.6:p.Leu294=
ENST00000395575.7:c.553T>C ENSP00000378942.3:p.Leu185=
ENST00000472059.6:c.*438T>C ENSP00000458397.1:n.*438T>C
ENST00000574078.3:n.209T>C
ENST00000581518.6:c.880T>C ENSP00000461916.2:p.Leu294=
ENST00000582991.6:c.880T>C ENSP00000464153.1:p.Leu294=
ENST00000671841.1:n.2559T>C
ENST00000671878.1:c.880T>C ENSP00000500516.1:p.Leu294=
ENST00000672059.1:n.1331T>C
ENST00000672357.1:c.880T>C ENSP00000500092.1:p.Leu294=
ENST00000672465.1:c.880T>C ENSP00000500517.1:p.Leu294=
ENST00000672487.1:c.*60T>C ENSP00000500740.1:n.*60T>C
ENST00000672564.1:n.1101T>C
ENST00000672567.1:c.771T>C
ENST00000672608.1:n.1869T>C
ENST00000672709.1:c.734T>C
ENST00000673064.1:n.1380T>C
ENST00000673136.1:c.880T>C ENSP00000500380.1:p.Leu294=
ENST00000673472.1:n.1216T>C
ENST00000673516.1:n.1340T>C
ENST00000176643.10:c.880T>C ENSP00000176643.6:p.Leu294=
ENST00000339618.8:c.880T>C ENSP00000345774.4:p.Leu294=
ENST00000395575.6:c.880T>C ENSP00000378942.2:p.Leu294=
ENST00000472059.5:c.*438T>C ENSP00000458397.1:n.*438T>C
ENST00000476965.5:n.630T>C
ENST00000571537.1:c.373T>C ENSP00000458942.1:p.Leu125=
ENST00000574078.2:n.209T>C
ENST00000578696.1:c.311T>C
ENST00000579855.5:c.880T>C ENSP00000463637.1:p.Leu294=
ENST00000581518.5:c.880T>C ENSP00000461916.1:p.Leu294=
ENST00000582991.5:c.880T>C ENSP00000464153.1:p.Leu294=
ENST00000630662.2:c.-102T>C ENSP00000487353.1:n.-102T>C
ENST00000631291.2:c.880T>C ENSP00000486085.1:p.Leu294=
NM_000382.2:c.880T>C NP_000373.1:p.Leu294=
NM_001031806.1:c.880T>C NP_001026976.1:p.Leu294=
XM_011523732.1:c.880T>C XP_011522034.1:p.Leu294=
XM_011523733.1:c.880T>C XP_011522035.1:p.Leu294=
XM_011523733.2:c.880T>C XP_011522035.1:p.Leu294=
XM_017024355.1:c.880T>C XP_016879844.1:p.Leu294=
XM_017024356.2:c.880T>C XP_016879845.1:p.Leu294=
XM_017024357.1:c.880T>C XP_016879846.1:p.Leu294=
XM_017024358.2:c.880T>C XP_016879847.1:p.Leu294=
XM_024450651.1:c.301T>C XP_024306419.1:p.Leu101=
XM_024450652.1:c.301T>C XP_024306420.1:p.Leu101=
NM_000382.3:c.880T>C MANE Select NP_000373.1:p.Leu294=
NM_001031806.2:c.880T>C NP_001026976.1:p.Leu294=
NM_001369136.1:c.880T>C NP_001356065.1:p.Leu294=
NM_001369137.1:c.880T>C NP_001356066.1:p.Leu294=
NM_001369138.1:c.880T>C NP_001356067.1:p.Leu294=
NM_001369139.1:c.880T>C NP_001356068.1:p.Leu294=
NM_001369146.1:c.880T>C NP_001356075.1:p.Leu294=
NM_001369148.1:c.301T>C NP_001356077.1:p.Leu101=
NM_001369137.2:c.880T>C NP_001356066.1:p.Leu294=
NM_001369138.2:c.880T>C NP_001356067.1:p.Leu294=
NM_001369146.2:c.880T>C NP_001356075.1:p.Leu294=
NM_001369148.2:c.301T>C NP_001356077.1:p.Leu101=