Canonical Allele Identifier: CA1616535045
Gene: ALDH5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1347897737
gnomAD v4: 6-24528272-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24528272C>A , CM000668.2:g.24528272C>A GRCh38
NC_000006.11:g.24528500C>A , CM000668.1:g.24528500C>A GRCh37
NC_000006.10:g.24636479C>A NCBI36
NG_008161.1:g.38304C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1343+106C>A MANE Select ENSP00000350191.3:n.1343+106C>A
ENST00000479394.2:n.458+106C>A
ENST00000672352.1:c.962+106C>A ENSP00000500876.1:n.962+106C>A
ENST00000672652.1:c.1306+106C>A
ENST00000348925.2:c.1382+106C>A ENSP00000314649.3:n.1382+106C>A
ENST00000357578.7:c.1343+106C>A ENSP00000350191.3:n.1343+106C>A
ENST00000479394.1:n.458+106C>A
ENST00000491546.5:c.1259+106C>A ENSP00000417687.1:n.1259+106C>A
NM_001080.3:c.1343+106C>A MANE Select NP_001071.1:n.1343+106C>A
NM_170740.1:c.1382+106C>A NP_733936.1:n.1382+106C>A
NM_001368954.1:c.1199+106C>A NP_001355883.1:n.1199+106C>A
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