Canonical Allele Identifier: CA1616510471
Gene: ALDH5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503389C= , CM000668.2:g.24503389C= GRCh38
NC_000006.11:g.24503617C= , CM000668.1:g.24503617C= GRCh37
NC_000006.10:g.24611596C= NCBI36
NG_008161.1:g.13421C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.565C= MANE Select ENSP00000350191.3:p.Leu189=
ENST00000672352.1:c.328C= ENSP00000500876.1:p.Leu110=
ENST00000672557.1:c.483C=
ENST00000672652.1:c.486C=
ENST00000675422.1:n.1325C=
ENST00000348925.2:c.565C= ENSP00000314649.3:p.Leu189=
ENST00000357578.7:c.565C= ENSP00000350191.3:p.Leu189=
ENST00000491546.5:c.481C= ENSP00000417687.1:p.Leu161=
NM_001080.3:c.565C= MANE Select NP_001071.1:p.Leu189=
NM_170740.1:c.565C= NP_733936.1:p.Leu189=
NM_001368954.1:c.565C= NP_001355883.1:p.Leu189=