Canonical Allele Identifier: CA2677527905

Gene: ALDH5A1

Linked Data

• gnomAD v4: 6-24503428-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503432del , CM000668.2:g.24503432del	GRCh38
NC_000006.11:g.24503660del , CM000668.1:g.24503660del	GRCh37
NC_000006.10:g.24611639del	NCBI36
NG_008161.1:g.13464del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.608del MANE Select	ENSP00000350191.3:p.Pro203ArgfsTer8
ENST00000672352.1:c.371del	ENSP00000500876.1:p.Pro124ArgfsTer8
ENST00000672557.1:c.526del
ENST00000672652.1:c.529del
ENST00000675422.1:n.1368del
ENST00000348925.2:c.608del	ENSP00000314649.3:p.Pro203ArgfsTer8
ENST00000357578.7:c.608del	ENSP00000350191.3:p.Pro203ArgfsTer8
ENST00000491546.5:c.524del	ENSP00000417687.1:p.Pro175ArgfsTer8
NM_001080.3:c.608del MANE Select	NP_001071.1:p.Pro203ArgfsTer8
NM_170740.1:c.608del	NP_733936.1:p.Pro203ArgfsTer8
NM_001368954.1:c.608del	NP_001355883.1:p.Pro203ArgfsTer8