Canonical Allele Identifier: CA1616510570
Gene: ALDH5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503420C= , CM000668.2:g.24503420C= GRCh38
NC_000006.11:g.24503648C= , CM000668.1:g.24503648C= GRCh37
NC_000006.10:g.24611627C= NCBI36
NG_008161.1:g.13452C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.596C= MANE Select ENSP00000350191.3:p.Ala199=
ENST00000672352.1:c.359C= ENSP00000500876.1:p.Ala120=
ENST00000672557.1:c.514C=
ENST00000672652.1:c.517C=
ENST00000675422.1:n.1356C=
ENST00000348925.2:c.596C= ENSP00000314649.3:p.Ala199=
ENST00000357578.7:c.596C= ENSP00000350191.3:p.Ala199=
ENST00000491546.5:c.512C= ENSP00000417687.1:p.Ala171=
NM_001080.3:c.596C= MANE Select NP_001071.1:p.Ala199=
NM_170740.1:c.596C= NP_733936.1:p.Ala199=
NM_001368954.1:c.596C= NP_001355883.1:p.Ala199=