Canonical Allele Identifier: CA16041809
Gene: ALDH3A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 370430
ClinVar RCV Id: RCV000412357
dbSNP Id: rs1057516481

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.19651674dup , CM000679.2:g.19651674dup GRCh38
NC_000017.10:g.19554987dup , CM000679.1:g.19554987dup GRCh37
NC_000017.9:g.19495579dup NCBI36
NG_007095.2:g.7924dup

Transcript Alleles

HGVS Amino-acid change
ENST00000176643.11:c.281dup MANE Select ENSP00000176643.6:p.Ala95GlyfsTer?
ENST00000395575.7:c.281dup ENSP00000378942.3:p.Ala95GlyfsTer?
ENST00000446398.7:n.291dup
ENST00000467473.6:n.404dup
ENST00000472059.6:c.281dup ENSP00000458397.1:p.Ala95GlyfsTer?
ENST00000581518.6:c.281dup ENSP00000461916.2:p.Ala95GlyfsTer?
ENST00000582991.6:c.281dup ENSP00000464153.1:p.Ala95GlyfsTer?
ENST00000671878.1:c.281dup ENSP00000500516.1:p.Ala95GlyfsTer?
ENST00000672357.1:c.281dup ENSP00000500092.1:p.Ala95GlyfsTer?
ENST00000672465.1:c.281dup ENSP00000500517.1:p.Ala95GlyfsTer?
ENST00000672487.1:c.281dup ENSP00000500740.1:p.Ala95GlyfsTer?
ENST00000672564.1:n.502dup
ENST00000672567.1:c.172dup
ENST00000672709.1:c.135dup
ENST00000673136.1:c.281dup ENSP00000500380.1:p.Ala95GlyfsTer?
ENST00000176643.10:c.281dup ENSP00000176643.6:p.Ala95GlyfsTer?
ENST00000339618.8:c.281dup ENSP00000345774.4:p.Ala95GlyfsTer?
ENST00000395575.6:c.281dup ENSP00000378942.2:p.Ala95GlyfsTer?
ENST00000446398.6:c.281dup ENSP00000395845.2:p.Ala95GlyfsTer?
ENST00000467473.5:n.438dup
ENST00000472059.5:c.281dup ENSP00000458397.1:p.Ala95GlyfsTer?
ENST00000578614.1:c.154-873dup ENSP00000463128.1:n.154-873dup
ENST00000579403.1:n.327dup
ENST00000579855.5:c.281dup ENSP00000463637.1:p.Ala95GlyfsTer?
ENST00000580550.5:c.281dup ENSP00000462964.1:p.Ala95GlyfsTer?
ENST00000581518.5:c.281dup ENSP00000461916.1:p.Ala95GlyfsTer?
ENST00000582991.5:c.281dup ENSP00000464153.1:p.Ala95GlyfsTer?
ENST00000584332.6:c.185dup ENSP00000466814.1:p.Ala63GlyfsTer?
ENST00000626500.2:c.281dup ENSP00000486283.1:p.Ala95GlyfsTer?
ENST00000630662.2:c.-701dup ENSP00000487353.1:n.-701dup
ENST00000631291.2:c.281dup ENSP00000486085.1:p.Ala95GlyfsTer?
NM_000382.2:c.281dup NP_000373.1:p.Ala95GlyfsTer?
NM_001031806.1:c.281dup NP_001026976.1:p.Ala95GlyfsTer?
XM_011523732.1:c.281dup XP_011522034.1:p.Ala95GlyfsTer?
XM_011523733.1:c.281dup XP_011522035.1:p.Ala95GlyfsTer?
XM_011523733.2:c.281dup XP_011522035.1:p.Ala95GlyfsTer?
XM_017024355.1:c.281dup XP_016879844.1:p.Ala95GlyfsTer?
XM_017024356.2:c.281dup XP_016879845.1:p.Ala95GlyfsTer?
XM_017024357.1:c.281dup XP_016879846.1:p.Ala95GlyfsTer?
XM_017024358.2:c.281dup XP_016879847.1:p.Ala95GlyfsTer?
XM_024450651.1:c.-408dup XP_024306419.1:n.-408dup
XM_024450652.1:c.-408dup XP_024306420.1:n.-408dup
NM_000382.3:c.281dup MANE Select NP_000373.1:p.Ala95GlyfsTer?
NM_001031806.2:c.281dup NP_001026976.1:p.Ala95GlyfsTer?
NM_001369136.1:c.281dup NP_001356065.1:p.Ala95GlyfsTer?
NM_001369137.1:c.281dup NP_001356066.1:p.Ala95GlyfsTer?
NM_001369138.1:c.281dup NP_001356067.1:p.Ala95GlyfsTer?
NM_001369139.1:c.281dup NP_001356068.1:p.Ala95GlyfsTer?
NM_001369146.1:c.281dup NP_001356075.1:p.Ala95GlyfsTer?
NM_001369148.1:c.-408dup NP_001356077.1:n.-408dup
NM_001369137.2:c.281dup NP_001356066.1:p.Ala95GlyfsTer?
NM_001369138.2:c.281dup NP_001356067.1:p.Ala95GlyfsTer?
NM_001369146.2:c.281dup NP_001356075.1:p.Ala95GlyfsTer?
NM_001369148.2:c.-408dup NP_001356077.1:n.-408dup