Canonical Allele Identifier: CA136134666

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24520535C>A , CM000668.2:g.24520535C>A	GRCh38
NC_000006.11:g.24520763C>A , CM000668.1:g.24520763C>A	GRCh37
NC_000006.10:g.24628742C>A	NCBI36
NG_008161.1:g.30567C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.1005C>A MANE Select	NP_001071.1:p.Asn335Lys
ENST00000357578.8:c.1005C>A MANE Select	ENSP00000350191.3:p.Asn335Lys
NM_001368954.1:c.861C>A	NP_001355883.1:p.Asn287Lys
NM_170740.1:c.1044C>A	NP_733936.1:p.Asn348Lys
ENST00000348925.2:c.1044C>A	ENSP00000314649.3:p.Asn348Lys
ENST00000357578.7:c.1005C>A	ENSP00000350191.3:p.Asn335Lys
ENST00000491546.5:c.921C>A	ENSP00000417687.1:p.Asn307Lys
ENST00000672352.1:c.624C>A	ENSP00000500876.1:p.Asn208Lys
ENST00000672619.1:n.365C>A
ENST00000672652.1:c.968C>A