Canonical Allele Identifier: CA2578543112
Gene: ALDH5A1 HGNC NCBI

Linked Data

gnomAD v4: 6-24528258-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24528258G>A , CM000668.2:g.24528258G>A GRCh38
NC_000006.11:g.24528486G>A , CM000668.1:g.24528486G>A GRCh37
NC_000006.10:g.24636465G>A NCBI36
NG_008161.1:g.38290G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1343+92G>A MANE Select ENSP00000350191.3:n.1343+92G>A
ENST00000479394.2:n.458+92G>A
ENST00000672352.1:c.962+92G>A ENSP00000500876.1:n.962+92G>A
ENST00000672652.1:c.1306+92G>A
ENST00000348925.2:c.1382+92G>A ENSP00000314649.3:n.1382+92G>A
ENST00000357578.7:c.1343+92G>A ENSP00000350191.3:n.1343+92G>A
ENST00000479394.1:n.458+92G>A
ENST00000491546.5:c.1259+92G>A ENSP00000417687.1:n.1259+92G>A
NM_001080.3:c.1343+92G>A MANE Select NP_001071.1:n.1343+92G>A
NM_170740.1:c.1382+92G>A NP_733936.1:n.1382+92G>A
NM_001368954.1:c.1199+92G>A NP_001355883.1:n.1199+92G>A
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