Canonical Allele Identifier: CA398710713

Gene: ALDH3A2

Linked Data

• ClinVar Variation Id: 2695607
• ClinVar RCV Id: RCV003542187
• gnomAD v4: 17-19671785-C-T
• MyVariant Identifiers: chr17:g.19575098C>T (hg19) ; chr17:g.19671785C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19671785C>T , CM000679.2:g.19671785C>T	GRCh38
NC_000017.10:g.19575098C>T , CM000679.1:g.19575098C>T	GRCh37
NC_000017.9:g.19515690C>T	NCBI36
NG_007095.2:g.28035C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000176643.11:c.1272C>T MANE Select	ENSP00000176643.6:p.Pro424=
ENST00000395575.7:c.945C>T	ENSP00000378942.3:p.Pro315=
ENST00000472059.6:c.*830C>T	ENSP00000458397.1:n.*830C>T
ENST00000571163.2:c.227-3711C>T	ENSP00000459977.2:n.227-3711C>T
ENST00000573947.2:c.72C>T	ENSP00000462933.2:p.Pro24=
ENST00000574078.3:n.601C>T
ENST00000581518.6:c.1272C>T	ENSP00000461916.2:p.Pro424=
ENST00000582991.6:c.1172C>T	ENSP00000464153.1:p.Pro391Leu
ENST00000671878.1:c.1272C>T	ENSP00000500516.1:p.Pro424=
ENST00000672059.1:n.1623C>T
ENST00000672357.1:c.1272C>T	ENSP00000500092.1:p.Pro424=
ENST00000672465.1:c.1272C>T	ENSP00000500517.1:p.Pro424=
ENST00000672487.1:c.*452C>T	ENSP00000500740.1:n.*452C>T
ENST00000672564.1:n.2941C>T
ENST00000672567.1:c.1098+6738C>T
ENST00000672591.1:c.332C>T
ENST00000672608.1:n.2261C>T
ENST00000672709.1:c.1126C>T
ENST00000673064.1:n.1772C>T
ENST00000673136.1:c.1208-3711C>T	ENSP00000500380.1:n.1208-3711C>T
ENST00000673472.1:n.1608C>T
ENST00000673516.1:n.1732C>T
ENST00000176643.10:c.1272C>T	ENSP00000176643.6:p.Pro424=
ENST00000339618.8:c.1272C>T	ENSP00000345774.4:p.Pro424=
ENST00000395575.6:c.1272C>T	ENSP00000378942.2:p.Pro424=
ENST00000472059.5:c.*830C>T	ENSP00000458397.1:n.*830C>T
ENST00000476965.5:n.1022C>T
ENST00000571163.1:c.227-3773C>T	ENSP00000459977.1:n.227-3773C>T
ENST00000573947.1:c.179C>T	ENSP00000462933.1:p.Pro60Leu
ENST00000575384.2:c.18C>T	ENSP00000461235.2:p.Pro6=
ENST00000579855.5:c.1272C>T	ENSP00000463637.1:p.Pro424=
ENST00000581518.5:c.1272C>T	ENSP00000461916.1:p.Pro424=
ENST00000582991.5:c.1172C>T	ENSP00000464153.1:p.Pro391Leu
ENST00000630662.2:c.227-3773C>T	ENSP00000487353.1:n.227-3773C>T
ENST00000631291.2:c.1172C>T	ENSP00000486085.1:p.Pro391Leu
NM_000382.2:c.1272C>T	NP_000373.1:p.Pro424=
NM_001031806.1:c.1272C>T	NP_001026976.1:p.Pro424=
XM_011523732.1:c.1272C>T	XP_011522034.1:p.Pro424=
XM_011523733.1:c.1272C>T	XP_011522035.1:p.Pro424=
XM_011523733.2:c.1272C>T	XP_011522035.1:p.Pro424=
XM_017024355.1:c.1208-3773C>T	XP_016879844.1:n.1208-3773C>T
XM_017024356.2:c.1272C>T	XP_016879845.1:p.Pro424=
XM_017024357.1:c.1272C>T	XP_016879846.1:p.Pro424=
XM_017024358.2:c.1208-3773C>T	XP_016879847.1:n.1208-3773C>T
XM_024450651.1:c.693C>T	XP_024306419.1:p.Pro231=
XM_024450652.1:c.693C>T	XP_024306420.1:p.Pro231=
NM_000382.3:c.1272C>T MANE Select	NP_000373.1:p.Pro424=
NM_001031806.2:c.1272C>T	NP_001026976.1:p.Pro424=
NM_001369136.1:c.1272C>T	NP_001356065.1:p.Pro424=
NM_001369137.1:c.1272C>T	NP_001356066.1:p.Pro424=
NM_001369138.1:c.1272C>T	NP_001356067.1:p.Pro424=
NM_001369139.1:c.1272C>T	NP_001356068.1:p.Pro424=
NM_001369146.1:c.1208-3773C>T	NP_001356075.1:n.1208-3773C>T
NM_001369148.1:c.693C>T	NP_001356077.1:p.Pro231=
NM_001369137.2:c.1272C>T	NP_001356066.1:p.Pro424=
NM_001369138.2:c.1272C>T	NP_001356067.1:p.Pro424=
NM_001369146.2:c.1208-3773C>T	NP_001356075.1:n.1208-3773C>T
NM_001369148.2:c.693C>T	NP_001356077.1:p.Pro231=