Canonical Allele Identifier: CA1616510496
Gene: ALDH5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503402A= , CM000668.2:g.24503402A= GRCh38
NC_000006.11:g.24503630A= , CM000668.1:g.24503630A= GRCh37
NC_000006.10:g.24611609A= NCBI36
NG_008161.1:g.13434A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.578A= MANE Select ENSP00000350191.3:p.Gln193=
ENST00000672352.1:c.341A= ENSP00000500876.1:p.Gln114=
ENST00000672557.1:c.496A=
ENST00000672652.1:c.499A=
ENST00000675422.1:n.1338A=
ENST00000348925.2:c.578A= ENSP00000314649.3:p.Gln193=
ENST00000357578.7:c.578A= ENSP00000350191.3:p.Gln193=
ENST00000491546.5:c.494A= ENSP00000417687.1:p.Gln165=
NM_001080.3:c.578A= MANE Select NP_001071.1:p.Gln193=
NM_170740.1:c.578A= NP_733936.1:p.Gln193=
NM_001368954.1:c.578A= NP_001355883.1:p.Gln193=