Canonical Allele Identifier: CA1616510528
Gene: ALDH5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503407A= , CM000668.2:g.24503407A= GRCh38
NC_000006.11:g.24503635A= , CM000668.1:g.24503635A= GRCh37
NC_000006.10:g.24611614A= NCBI36
NG_008161.1:g.13439A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.583A= MANE Select ENSP00000350191.3:p.Ile195=
ENST00000672352.1:c.346A= ENSP00000500876.1:p.Ile116=
ENST00000672557.1:c.501A=
ENST00000672652.1:c.504A=
ENST00000675422.1:n.1343A=
ENST00000348925.2:c.583A= ENSP00000314649.3:p.Ile195=
ENST00000357578.7:c.583A= ENSP00000350191.3:p.Ile195=
ENST00000491546.5:c.499A= ENSP00000417687.1:p.Ile167=
NM_001080.3:c.583A= MANE Select NP_001071.1:p.Ile195=
NM_170740.1:c.583A= NP_733936.1:p.Ile195=
NM_001368954.1:c.583A= NP_001355883.1:p.Ile195=