Canonical Allele Identifier: CA1616510368
Gene: ALDH5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503357T= , CM000668.2:g.24503357T= GRCh38
NC_000006.11:g.24503585T= , CM000668.1:g.24503585T= GRCh37
NC_000006.10:g.24611564T= NCBI36
NG_008161.1:g.13389T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.533T= MANE Select ENSP00000350191.3:p.Ile178=
ENST00000672352.1:c.296T= ENSP00000500876.1:p.Ile99=
ENST00000672557.1:c.451T=
ENST00000672652.1:c.454T=
ENST00000675422.1:n.1293T=
ENST00000348925.2:c.533T= ENSP00000314649.3:p.Ile178=
ENST00000357578.7:c.533T= ENSP00000350191.3:p.Ile178=
ENST00000491546.5:c.449T= ENSP00000417687.1:p.Ile150=
NM_001080.3:c.533T= MANE Select NP_001071.1:p.Ile178=
NM_170740.1:c.533T= NP_733936.1:p.Ile178=
NM_001368954.1:c.533T= NP_001355883.1:p.Ile178=