Canonical Allele Identifier: CA2677529400
Gene: ALDH5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24527897_24527904del , CM000668.2:g.24527897_24527904del GRCh38
NC_000006.11:g.24528125_24528132del , CM000668.1:g.24528125_24528132del GRCh37
NC_000006.10:g.24636104_24636111del NCBI36
NG_008161.1:g.37929_37936del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1174-100_1174-93del MANE Select ENSP00000350191.3:n.1174-100_1174-93del
ENST00000479394.2:n.289-100_289-93del
ENST00000672352.1:c.793-100_793-93del ENSP00000500876.1:n.793-100_793-93del
ENST00000672652.1:c.1137-100_1137-93del
ENST00000348925.2:c.1213-100_1213-93del ENSP00000314649.3:n.1213-100_1213-93del
ENST00000357578.7:c.1174-100_1174-93del ENSP00000350191.3:n.1174-100_1174-93del
ENST00000479394.1:n.289-100_289-93del
ENST00000491546.5:c.1090-100_1090-93del ENSP00000417687.1:n.1090-100_1090-93del
NM_001080.3:c.1174-100_1174-93del MANE Select NP_001071.1:n.1174-100_1174-93del
NM_170740.1:c.1213-100_1213-93del NP_733936.1:n.1213-100_1213-93del
NM_001368954.1:c.1030-100_1030-93del NP_001355883.1:n.1030-100_1030-93del