Canonical Allele Identifier: CA2740097755

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503406del , CM000668.2:g.24503406del	GRCh38
NC_000006.11:g.24503634del , CM000668.1:g.24503634del	GRCh37
NC_000006.10:g.24611613del	NCBI36
NG_008161.1:g.13438del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.582del MANE Select	ENSP00000350191.3:p.Ile195Ter
ENST00000672352.1:c.345del	ENSP00000500876.1:p.Ile116Ter
ENST00000672557.1:c.500del
ENST00000672652.1:c.503del
ENST00000675422.1:n.1342del
ENST00000348925.2:c.582del	ENSP00000314649.3:p.Ile195Ter
ENST00000357578.7:c.582del	ENSP00000350191.3:p.Ile195Ter
ENST00000491546.5:c.498del	ENSP00000417687.1:p.Ile167Ter
NM_001080.3:c.582del MANE Select	NP_001071.1:p.Ile195Ter
NM_170740.1:c.582del	NP_733936.1:p.Ile195Ter
NM_001368954.1:c.582del	NP_001355883.1:p.Ile195Ter