Canonical Allele Identifier: CA3656903

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528143C>T , CM000668.2:g.24528143C>T	GRCh38
NC_000006.11:g.24528371C>T , CM000668.1:g.24528371C>T	GRCh37
NC_000006.10:g.24636350C>T	NCBI36
NG_008161.1:g.38175C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.1320C>T MANE Select	NP_001071.1:p.Phe440=
ENST00000357578.8:c.1320C>T MANE Select	ENSP00000350191.3:p.Phe440=
NM_001368954.1:c.1176C>T	NP_001355883.1:p.Phe392=
NM_170740.1:c.1359C>T	NP_733936.1:p.Phe453=
ENST00000348925.2:c.1359C>T	ENSP00000314649.3:p.Phe453=
ENST00000357578.7:c.1320C>T	ENSP00000350191.3:p.Phe440=
ENST00000479394.1:n.435C>T
ENST00000479394.2:n.435C>T
ENST00000491546.5:c.1236C>T	ENSP00000417687.1:p.Phe412=
ENST00000672352.1:c.939C>T	ENSP00000500876.1:p.Phe313=
ENST00000672652.1:c.1283C>T