Canonical Allele Identifier: CA912999786
Gene: ALDH3A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.19575079dup (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.19671766dup , CM000679.2:g.19671766dup GRCh38
NC_000017.10:g.19575079dup , CM000679.1:g.19575079dup GRCh37
NC_000017.9:g.19515671dup NCBI36
NG_007095.2:g.28016dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000176643.11:c.1253dup MANE Select ENSP00000176643.6:p.Ser420PhefsTer17
ENST00000395575.7:c.926dup ENSP00000378942.3:p.Ser311PhefsTer17
ENST00000472059.6:c.*811dup ENSP00000458397.1:n.*811dup
ENST00000571163.2:c.227-3730dup ENSP00000459977.2:n.227-3730dup
ENST00000573947.2:c.53dup ENSP00000462933.2:p.Ser20PhefsTer17
ENST00000574078.3:n.582dup
ENST00000581518.6:c.1253dup ENSP00000461916.2:p.Ser420PhefsTer17
ENST00000582991.6:c.1153dup ENSP00000464153.1:p.Leu385ProfsTer?
ENST00000671878.1:c.1253dup ENSP00000500516.1:p.Ser420PhefsTer17
ENST00000672059.1:n.1604dup
ENST00000672357.1:c.1253dup ENSP00000500092.1:p.Ser420PhefsTer17
ENST00000672465.1:c.1253dup ENSP00000500517.1:p.Ser420PhefsTer17
ENST00000672487.1:c.*433dup ENSP00000500740.1:n.*433dup
ENST00000672564.1:n.2922dup
ENST00000672567.1:c.1098+6719dup
ENST00000672591.1:c.313dup
ENST00000672608.1:n.2242dup
ENST00000672709.1:c.1107dup
ENST00000673064.1:n.1753dup
ENST00000673136.1:c.1208-3730dup ENSP00000500380.1:n.1208-3730dup
ENST00000673472.1:n.1589dup
ENST00000673516.1:n.1713dup
ENST00000176643.10:c.1253dup ENSP00000176643.6:p.Ser420PhefsTer17
ENST00000339618.8:c.1253dup ENSP00000345774.4:p.Ser420PhefsTer17
ENST00000395575.6:c.1253dup ENSP00000378942.2:p.Ser420PhefsTer17
ENST00000472059.5:c.*811dup ENSP00000458397.1:n.*811dup
ENST00000476965.5:n.1003dup
ENST00000571163.1:c.227-3792dup ENSP00000459977.1:n.227-3792dup
ENST00000573947.1:c.160dup ENSP00000462933.1:p.Leu54ProfsTer?
ENST00000579855.5:c.1253dup ENSP00000463637.1:p.Ser420PhefsTer17
ENST00000581518.5:c.1253dup ENSP00000461916.1:p.Ser420PhefsTer17
ENST00000582991.5:c.1153dup ENSP00000464153.1:p.Leu385ProfsTer?
ENST00000630662.2:c.227-3792dup ENSP00000487353.1:n.227-3792dup
ENST00000631291.2:c.1153dup ENSP00000486085.1:p.Leu385ProfsTer?
NM_000382.2:c.1253dup NP_000373.1:p.Ser420PhefsTer17
NM_001031806.1:c.1253dup NP_001026976.1:p.Ser420PhefsTer17
XM_011523732.1:c.1253dup XP_011522034.1:p.Ser420PhefsTer17
XM_011523733.1:c.1253dup XP_011522035.1:p.Ser420PhefsTer17
XM_011523733.2:c.1253dup XP_011522035.1:p.Ser420PhefsTer17
XM_017024355.1:c.1208-3792dup XP_016879844.1:n.1208-3792dup
XM_017024356.2:c.1253dup XP_016879845.1:p.Ser420PhefsTer17
XM_017024357.1:c.1253dup XP_016879846.1:p.Ser420PhefsTer17
XM_017024358.2:c.1208-3792dup XP_016879847.1:n.1208-3792dup
XM_024450651.1:c.674dup XP_024306419.1:p.Ser227PhefsTer17
XM_024450652.1:c.674dup XP_024306420.1:p.Ser227PhefsTer17
NM_000382.3:c.1253dup MANE Select NP_000373.1:p.Ser420PhefsTer17
NM_001031806.2:c.1253dup NP_001026976.1:p.Ser420PhefsTer17
NM_001369136.1:c.1253dup NP_001356065.1:p.Ser420PhefsTer17
NM_001369137.1:c.1253dup NP_001356066.1:p.Ser420PhefsTer17
NM_001369138.1:c.1253dup NP_001356067.1:p.Ser420PhefsTer17
NM_001369139.1:c.1253dup NP_001356068.1:p.Ser420PhefsTer17
NM_001369146.1:c.1208-3792dup NP_001356075.1:n.1208-3792dup
NM_001369148.1:c.674dup NP_001356077.1:p.Ser227PhefsTer17
NM_001369137.2:c.1253dup NP_001356066.1:p.Ser420PhefsTer17
NM_001369138.2:c.1253dup NP_001356067.1:p.Ser420PhefsTer17
NM_001369146.2:c.1208-3792dup NP_001356075.1:n.1208-3792dup
NM_001369148.2:c.674dup NP_001356077.1:p.Ser227PhefsTer17