Canonical Allele Identifier: CA362969243

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24502580C>T , CM000668.2:g.24502580C>T	GRCh38
NC_000006.11:g.24502808C>T , CM000668.1:g.24502808C>T	GRCh37
NC_000006.10:g.24610787C>T	NCBI36
NG_008161.1:g.12612C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.412C>T MANE Select	NP_001071.1:p.Leu138Phe
ENST00000357578.8:c.412C>T MANE Select	ENSP00000350191.3:p.Leu138Phe
NM_001368954.1:c.412C>T	NP_001355883.1:p.Leu138Phe
NM_170740.1:c.412C>T	NP_733936.1:p.Leu138Phe
ENST00000348925.2:c.412C>T	ENSP00000314649.3:p.Leu138Phe
ENST00000357578.7:c.412C>T	ENSP00000350191.3:p.Leu138Phe
ENST00000491546.5:c.355-683C>T	ENSP00000417687.1:n.355-683C>T
ENST00000672352.1:c.175C>T	ENSP00000500876.1:p.Leu59Phe
ENST00000672557.1:c.173C>T
ENST00000672652.1:c.333C>T
ENST00000675422.1:n.1172C>T