Canonical Allele Identifier: CA3656701
Community Standard Title: NM_001080.3(ALDH5A1):c.709G>A (p.Ala237Thr)
Gene: ALDH5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24504968G>A , CM000668.2:g.24504968G>A GRCh38
NC_000006.11:g.24505196G>A , CM000668.1:g.24505196G>A GRCh37
NC_000006.10:g.24613175G>A NCBI36
NG_008161.1:g.15000G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001080.3:c.709G>A MANE Select NP_001071.1:p.Ala237Thr
ENST00000357578.8:c.709G>A MANE Select ENSP00000350191.3:p.Ala237Thr
NM_001368954.1:c.709G>A NP_001355883.1:p.Ala237Thr
NM_170740.1:c.709G>A NP_733936.1:p.Ala237Thr
ENST00000348925.2:c.709G>A ENSP00000314649.3:p.Ala237Thr
ENST00000357578.7:c.709G>A ENSP00000350191.3:p.Ala237Thr
ENST00000491546.5:c.625G>A ENSP00000417687.1:p.Ala209Thr
ENST00000672352.1:c.472G>A ENSP00000500876.1:p.Ala158Thr
ENST00000672557.1:c.627G>A
ENST00000672619.1:n.69G>A
ENST00000672652.1:c.630G>A
ENST00000675422.1:n.1469G>A