Canonical Allele Identifier: CA1616535036
Gene: ALDH5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1759860478
gnomAD v4: 6-24528247-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24528247C>T , CM000668.2:g.24528247C>T GRCh38
NC_000006.11:g.24528475C>T , CM000668.1:g.24528475C>T GRCh37
NC_000006.10:g.24636454C>T NCBI36
NG_008161.1:g.38279C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1343+81C>T MANE Select ENSP00000350191.3:n.1343+81C>T
ENST00000479394.2:n.458+81C>T
ENST00000672352.1:c.962+81C>T ENSP00000500876.1:n.962+81C>T
ENST00000672652.1:c.1306+81C>T
ENST00000348925.2:c.1382+81C>T ENSP00000314649.3:n.1382+81C>T
ENST00000357578.7:c.1343+81C>T ENSP00000350191.3:n.1343+81C>T
ENST00000479394.1:n.458+81C>T
ENST00000491546.5:c.1259+81C>T ENSP00000417687.1:n.1259+81C>T
NM_001080.3:c.1343+81C>T MANE Select NP_001071.1:n.1343+81C>T
NM_170740.1:c.1382+81C>T NP_733936.1:n.1382+81C>T
NM_001368954.1:c.1199+81C>T NP_001355883.1:n.1199+81C>T