Canonical Allele Identifier: CA362969052

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24502539T>G , CM000668.2:g.24502539T>G	GRCh38
NC_000006.11:g.24502767T>G , CM000668.1:g.24502767T>G	GRCh37
NC_000006.10:g.24610746T>G	NCBI36
NG_008161.1:g.12571T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.371T>G MANE Select	NP_001071.1:p.Leu124Arg
ENST00000357578.8:c.371T>G MANE Select	ENSP00000350191.3:p.Leu124Arg
NM_001368954.1:c.371T>G	NP_001355883.1:p.Leu124Arg
NM_170740.1:c.371T>G	NP_733936.1:p.Leu124Arg
ENST00000348925.2:c.371T>G	ENSP00000314649.3:p.Leu124Arg
ENST00000357578.7:c.371T>G	ENSP00000350191.3:p.Leu124Arg
ENST00000491546.5:c.355-724T>G	ENSP00000417687.1:n.355-724T>G
ENST00000672352.1:c.134T>G	ENSP00000500876.1:p.Leu45Arg
ENST00000672557.1:c.132T>G
ENST00000672652.1:c.292T>G
ENST00000675422.1:n.1131T>G