Canonical Allele Identifier: CA566286741
Gene: ALDH5A1 HGNC NCBI

Linked Data

gnomAD v2: 6-24528124-T-A
gnomAD v3: 6-24527896-T-A
gnomAD v4: 6-24527896-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24527896T>A , CM000668.2:g.24527896T>A GRCh38
NC_000006.11:g.24528124T>A , CM000668.1:g.24528124T>A GRCh37
NC_000006.10:g.24636103T>A NCBI36
NG_008161.1:g.37928T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1174-101T>A MANE Select ENSP00000350191.3:n.1174-101T>A
ENST00000479394.2:n.289-101T>A
ENST00000672352.1:c.793-101T>A ENSP00000500876.1:n.793-101T>A
ENST00000672652.1:c.1137-101T>A
ENST00000348925.2:c.1213-101T>A ENSP00000314649.3:n.1213-101T>A
ENST00000357578.7:c.1174-101T>A ENSP00000350191.3:n.1174-101T>A
ENST00000479394.1:n.289-101T>A
ENST00000491546.5:c.1090-101T>A ENSP00000417687.1:n.1090-101T>A
NM_001080.3:c.1174-101T>A MANE Select NP_001071.1:n.1174-101T>A
NM_170740.1:c.1213-101T>A NP_733936.1:n.1213-101T>A
NM_001368954.1:c.1030-101T>A NP_001355883.1:n.1030-101T>A