Canonical Allele Identifier: CA362970065

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24504912C>A , CM000668.2:g.24504912C>A	GRCh38
NC_000006.11:g.24505140C>A , CM000668.1:g.24505140C>A	GRCh37
NC_000006.10:g.24613119C>A	NCBI36
NG_008161.1:g.14944C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.653C>A MANE Select	NP_001071.1:p.Ala218Asp
ENST00000357578.8:c.653C>A MANE Select	ENSP00000350191.3:p.Ala218Asp
NM_001368954.1:c.653C>A	NP_001355883.1:p.Ala218Asp
NM_170740.1:c.653C>A	NP_733936.1:p.Ala218Asp
ENST00000348925.2:c.653C>A	ENSP00000314649.3:p.Ala218Asp
ENST00000357578.7:c.653C>A	ENSP00000350191.3:p.Ala218Asp
ENST00000491546.5:c.569C>A	ENSP00000417687.1:p.Ala190Asp
ENST00000672352.1:c.416C>A	ENSP00000500876.1:p.Ala139Asp
ENST00000672557.1:c.571C>A
ENST00000672619.1:n.13C>A
ENST00000672652.1:c.574C>A
ENST00000675422.1:n.1413C>A