Canonical Allele Identifier: CA362969666
Gene: ALDH5A1 HGNC NCBI

Linked Data

gnomAD v4: 6-24503398-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503398A>G , CM000668.2:g.24503398A>G GRCh38
NC_000006.11:g.24503626A>G , CM000668.1:g.24503626A>G GRCh37
NC_000006.10:g.24611605A>G NCBI36
NG_008161.1:g.13430A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.574A>G MANE Select ENSP00000350191.3:p.Lys192Glu
ENST00000672352.1:c.337A>G ENSP00000500876.1:p.Lys113Glu
ENST00000672557.1:c.492A>G
ENST00000672652.1:c.495A>G
ENST00000675422.1:n.1334A>G
ENST00000348925.2:c.574A>G ENSP00000314649.3:p.Lys192Glu
ENST00000357578.7:c.574A>G ENSP00000350191.3:p.Lys192Glu
ENST00000491546.5:c.490A>G ENSP00000417687.1:p.Lys164Glu
NM_001080.3:c.574A>G MANE Select NP_001071.1:p.Lys192Glu
NM_170740.1:c.574A>G NP_733936.1:p.Lys192Glu
NM_001368954.1:c.574A>G NP_001355883.1:p.Lys192Glu