Canonical Allele Identifier: CA2578543030
Gene: ALDH5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503445del , CM000668.2:g.24503445del GRCh38
NC_000006.11:g.24503673del , CM000668.1:g.24503673del GRCh37
NC_000006.10:g.24611652del NCBI36
NG_008161.1:g.13477del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.609+12del MANE Select ENSP00000350191.3:n.609+12del
ENST00000672352.1:c.372+12del ENSP00000500876.1:n.372+12del
ENST00000672557.1:c.527+12del
ENST00000672652.1:c.530+12del
ENST00000675422.1:n.1369+12del
ENST00000348925.2:c.609+12del ENSP00000314649.3:n.609+12del
ENST00000357578.7:c.609+12del ENSP00000350191.3:n.609+12del
ENST00000491546.5:c.525+12del ENSP00000417687.1:n.525+12del
NM_001080.3:c.609+12del MANE Select NP_001071.1:n.609+12del
NM_170740.1:c.609+12del NP_733936.1:n.609+12del
NM_001368954.1:c.609+12del NP_001355883.1:n.609+12del