Canonical Allele Identifier: CA16042724
Gene: ALDH18A1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373670
ClinVar RCV Id: RCV000412958
dbSNP Id: rs1057518541

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.95637169C>T , CM000672.2:g.95637169C>T GRCh38
NC_000010.10:g.97396926C>T , CM000672.1:g.97396926C>T GRCh37
NC_000010.9:g.97386916C>T NCBI36
NG_012258.1:g.24642G>A

Transcript Alleles

HGVS Amino-acid change
NM_001017423.1:c.482G>A VV NP_001017423.1:p.Cys161Tyr
NM_002860.3:c.482G>A VV NP_002851.2:p.Cys161Tyr
XM_006717933.1:c.482G>A XP_006717996.1:p.Cys161Tyr
XM_011540001.1:c.149G>A XP_011538303.1:p.Cys50Tyr
NM_001323412.1:c.149G>A VV NP_001310341.1:p.Cys50Tyr
NM_001323413.1:c.482G>A VV NP_001310342.1:p.Cys161Tyr
NM_001323414.1:c.482G>A VV NP_001310343.1:p.Cys161Tyr
NM_001323415.1:c.482G>A VV NP_001310344.1:p.Cys161Tyr
NM_001323416.1:c.149G>A VV NP_001310345.1:p.Cys50Tyr
NM_001323417.1:c.453+118G>A VV NP_001310346.1:p.=
NM_001323418.1:c.149G>A VV NP_001310347.1:p.Cys50Tyr
NM_001323419.1:c.-78-3520G>A VV NP_001310348.1:p.=
XM_024448094.1:c.482G>A XP_024303862.1:p.Cys161Tyr
XM_024448095.1:c.482G>A XP_024303863.1:p.Cys161Tyr
XM_024448096.1:c.482G>A XP_024303864.1:p.Cys161Tyr
XM_024448097.1:c.149G>A XP_024303865.1:p.Cys50Tyr
NM_002860.4:c.482G>A VV MANE Preferred
ENST00000371221.3:c.482G>A ENSP00000360265.3:p.Cys161Tyr
ENST00000371224.6:c.482G>A ENSP00000360268.2:p.Cys161Tyr
ENST00000483788.1:n.674G>A