Canonical Allele Identifier: CA2677529429
Gene: ALDH5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24527985_24527987del , CM000668.2:g.24527985_24527987del GRCh38
NC_000006.11:g.24528213_24528215del , CM000668.1:g.24528213_24528215del GRCh37
NC_000006.10:g.24636192_24636194del NCBI36
NG_008161.1:g.38017_38019del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1174-12_1174-10del MANE Select ENSP00000350191.3:n.1174-12_1174-10del
ENST00000479394.2:n.289-12_289-10del
ENST00000672352.1:c.793-12_793-10del ENSP00000500876.1:n.793-12_793-10del
ENST00000672652.1:c.1137-12_1137-10del
ENST00000348925.2:c.1213-12_1213-10del ENSP00000314649.3:n.1213-12_1213-10del
ENST00000357578.7:c.1174-12_1174-10del ENSP00000350191.3:n.1174-12_1174-10del
ENST00000479394.1:n.289-12_289-10del
ENST00000491546.5:c.1090-12_1090-10del ENSP00000417687.1:n.1090-12_1090-10del
NM_001080.3:c.1174-12_1174-10del MANE Select NP_001071.1:n.1174-12_1174-10del
NM_170740.1:c.1213-12_1213-10del NP_733936.1:n.1213-12_1213-10del
NM_001368954.1:c.1030-12_1030-10del NP_001355883.1:n.1030-12_1030-10del