Canonical Allele Identifier: CA2573140148

Gene: ALDH5A1

Linked Data

• ClinVar Variation Id: 1418452
• ClinVar RCV Id: RCV001952124
• dbSNP Id: rs2127382457

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503368_24503369delinsGT , CM000668.2:g.24503368_24503369delinsGT	GRCh38
NC_000006.11:g.24503596_24503597delinsGT , CM000668.1:g.24503596_24503597delinsGT	GRCh37
NC_000006.10:g.24611575_24611576delinsGT	NCBI36
NG_008161.1:g.13400_13401delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.544_545delinsGT MANE Select	ENSP00000350191.3:p.Pro182Val
ENST00000672352.1:c.307_308delinsGT	ENSP00000500876.1:p.Pro103Val
ENST00000672557.1:c.462_463delinsGT
ENST00000672652.1:c.465_466delinsGT
ENST00000675422.1:n.1304_1305delinsGT
ENST00000348925.2:c.544_545delinsGT	ENSP00000314649.3:p.Pro182Val
ENST00000357578.7:c.544_545delinsGT	ENSP00000350191.3:p.Pro182Val
ENST00000491546.5:c.460_461delinsGT	ENSP00000417687.1:p.Pro154Val
NM_001080.3:c.544_545delinsGT MANE Select	NP_001071.1:p.Pro182Val
NM_170740.1:c.544_545delinsGT	NP_733936.1:p.Pro182Val
NM_001368954.1:c.544_545delinsGT	NP_001355883.1:p.Pro182Val