Canonical Allele Identifier: CA2580074523

Gene: ALDH5A1

Linked Data

• ClinVar Variation Id: 1878539
• ClinVar RCV Id: RCV002510630

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503428del , CM000668.2:g.24503428del	GRCh38
NC_000006.11:g.24503656del , CM000668.1:g.24503656del	GRCh37
NC_000006.10:g.24611635del	NCBI36
NG_008161.1:g.13460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.604del MANE Select	ENSP00000350191.3:p.Thr202ProfsTer9
ENST00000672352.1:c.367del	ENSP00000500876.1:p.Thr123ProfsTer9
ENST00000672557.1:c.522del
ENST00000672652.1:c.525del
ENST00000675422.1:n.1364del
ENST00000348925.2:c.604del	ENSP00000314649.3:p.Thr202ProfsTer9
ENST00000357578.7:c.604del	ENSP00000350191.3:p.Thr202ProfsTer9
ENST00000491546.5:c.520del	ENSP00000417687.1:p.Thr174ProfsTer9
NM_001080.3:c.604del MANE Select	NP_001071.1:p.Thr202ProfsTer9
NM_170740.1:c.604del	NP_733936.1:p.Thr202ProfsTer9
NM_001368954.1:c.604del	NP_001355883.1:p.Thr202ProfsTer9