Canonical Allele Identifier: CA2578543110
Gene: ALDH5A1 HGNC NCBI

Linked Data

gnomAD v4: 6-24528223-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24528223A>T , CM000668.2:g.24528223A>T GRCh38
NC_000006.11:g.24528451A>T , CM000668.1:g.24528451A>T GRCh37
NC_000006.10:g.24636430A>T NCBI36
NG_008161.1:g.38255A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1343+57A>T MANE Select ENSP00000350191.3:n.1343+57A>T
ENST00000479394.2:n.458+57A>T
ENST00000672352.1:c.962+57A>T ENSP00000500876.1:n.962+57A>T
ENST00000672652.1:c.1306+57A>T
ENST00000348925.2:c.1382+57A>T ENSP00000314649.3:n.1382+57A>T
ENST00000357578.7:c.1343+57A>T ENSP00000350191.3:n.1343+57A>T
ENST00000479394.1:n.458+57A>T
ENST00000491546.5:c.1259+57A>T ENSP00000417687.1:n.1259+57A>T
NM_001080.3:c.1343+57A>T MANE Select NP_001071.1:n.1343+57A>T
NM_170740.1:c.1382+57A>T NP_733936.1:n.1382+57A>T
NM_001368954.1:c.1199+57A>T NP_001355883.1:n.1199+57A>T