Canonical Allele Identifier: CA1616534951
Gene: ALDH5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24528066C= , CM000668.2:g.24528066C= GRCh38
NC_000006.11:g.24528294C= , CM000668.1:g.24528294C= GRCh37
NC_000006.10:g.24636273C= NCBI36
NG_008161.1:g.38098C=

Transcript Alleles

HGVS Amino-acid change
ENST00000357578.8:c.1243C= MANE Select ENSP00000350191.3:p.Leu415=
ENST00000479394.2:n.358C=
ENST00000672352.1:c.862C= ENSP00000500876.1:p.Leu288=
ENST00000672652.1:c.1206C=
ENST00000348925.2:c.1282C= ENSP00000314649.3:p.Leu428=
ENST00000357578.7:c.1243C= ENSP00000350191.3:p.Leu415=
ENST00000479394.1:n.358C=
ENST00000491546.5:c.1159C= ENSP00000417687.1:p.Leu387=
NM_001080.3:c.1243C= MANE Select NP_001071.1:p.Leu415=
NM_170740.1:c.1282C= NP_733936.1:p.Leu428=
NM_001368954.1:c.1099C= NP_001355883.1:p.Leu367=