Canonical Allele Identifier: CA2677529500
Gene: ALDH5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24528134_24528136del , CM000668.2:g.24528134_24528136del GRCh38
NC_000006.11:g.24528362_24528364del , CM000668.1:g.24528362_24528364del GRCh37
NC_000006.10:g.24636341_24636343del NCBI36
NG_008161.1:g.38166_38168del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1311_1313del MANE Select ENSP00000350191.3:p.Glu438del
ENST00000479394.2:n.426_428del
ENST00000672352.1:c.930_932del ENSP00000500876.1:p.Glu311del
ENST00000672652.1:c.1274_1276del
ENST00000348925.2:c.1350_1352del ENSP00000314649.3:p.Glu451del
ENST00000357578.7:c.1311_1313del ENSP00000350191.3:p.Glu438del
ENST00000479394.1:n.426_428del
ENST00000491546.5:c.1227_1229del ENSP00000417687.1:p.Glu410del
NM_001080.3:c.1311_1313del MANE Select NP_001071.1:p.Glu438del
NM_170740.1:c.1350_1352del NP_733936.1:p.Glu451del
NM_001368954.1:c.1167_1169del NP_001355883.1:p.Glu390del