Canonical Allele Identifier: CA362976570

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24522897C>T , CM000668.2:g.24522897C>T	GRCh38
NC_000006.11:g.24523125C>T , CM000668.1:g.24523125C>T	GRCh37
NC_000006.10:g.24631104C>T	NCBI36
NG_008161.1:g.32929C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.1145C>T MANE Select	NP_001071.1:p.Pro382Leu
ENST00000357578.8:c.1145C>T MANE Select	ENSP00000350191.3:p.Pro382Leu
NM_001368954.1:c.1001C>T	NP_001355883.1:p.Pro334Leu
NM_170740.1:c.1184C>T	NP_733936.1:p.Pro395Leu
ENST00000348925.2:c.1184C>T	ENSP00000314649.3:p.Pro395Leu
ENST00000357578.7:c.1145C>T	ENSP00000350191.3:p.Pro382Leu
ENST00000479394.1:n.260C>T
ENST00000479394.2:n.260C>T
ENST00000491546.5:c.1061C>T	ENSP00000417687.1:p.Pro354Leu
ENST00000672352.1:c.764C>T	ENSP00000500876.1:p.Pro255Leu
ENST00000672619.1:n.505C>T
ENST00000672652.1:c.1108C>T