Canonical Allele Identifier: CA3656694
Community Standard Title: NM_001080.3(ALDH5A1):c.692A>G (p.Glu231Gly)
Gene: ALDH5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24504951A>G , CM000668.2:g.24504951A>G GRCh38
NC_000006.11:g.24505179A>G , CM000668.1:g.24505179A>G GRCh37
NC_000006.10:g.24613158A>G NCBI36
NG_008161.1:g.14983A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001080.3:c.692A>G MANE Select NP_001071.1:p.Glu231Gly
ENST00000357578.8:c.692A>G MANE Select ENSP00000350191.3:p.Glu231Gly
NM_001368954.1:c.692A>G NP_001355883.1:p.Glu231Gly
NM_170740.1:c.692A>G NP_733936.1:p.Glu231Gly
ENST00000348925.2:c.692A>G ENSP00000314649.3:p.Glu231Gly
ENST00000357578.7:c.692A>G ENSP00000350191.3:p.Glu231Gly
ENST00000491546.5:c.608A>G ENSP00000417687.1:p.Glu203Gly
ENST00000672352.1:c.455A>G ENSP00000500876.1:p.Glu152Gly
ENST00000672557.1:c.610A>G
ENST00000672619.1:n.52A>G
ENST00000672652.1:c.613A>G
ENST00000675422.1:n.1452A>G