Canonical Allele Identifier: CA2677529413
Gene: ALDH5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24527919_24527920del , CM000668.2:g.24527919_24527920del GRCh38
NC_000006.11:g.24528147_24528148del , CM000668.1:g.24528147_24528148del GRCh37
NC_000006.10:g.24636126_24636127del NCBI36
NG_008161.1:g.37951_37952del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1174-78_1174-77del MANE Select ENSP00000350191.3:n.1174-78_1174-77del
ENST00000479394.2:n.289-78_289-77del
ENST00000672352.1:c.793-78_793-77del ENSP00000500876.1:n.793-78_793-77del
ENST00000672652.1:c.1137-78_1137-77del
ENST00000348925.2:c.1213-78_1213-77del ENSP00000314649.3:n.1213-78_1213-77del
ENST00000357578.7:c.1174-78_1174-77del ENSP00000350191.3:n.1174-78_1174-77del
ENST00000479394.1:n.289-78_289-77del
ENST00000491546.5:c.1090-78_1090-77del ENSP00000417687.1:n.1090-78_1090-77del
NM_001080.3:c.1174-78_1174-77del MANE Select NP_001071.1:n.1174-78_1174-77del
NM_170740.1:c.1213-78_1213-77del NP_733936.1:n.1213-78_1213-77del
NM_001368954.1:c.1030-78_1030-77del NP_001355883.1:n.1030-78_1030-77del