Canonical Allele Identifier: CA1616510501
Gene: ALDH5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503403G= , CM000668.2:g.24503403G= GRCh38
NC_000006.11:g.24503631G= , CM000668.1:g.24503631G= GRCh37
NC_000006.10:g.24611610G= NCBI36
NG_008161.1:g.13435G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.579G= MANE Select ENSP00000350191.3:p.Gln193=
ENST00000672352.1:c.342G= ENSP00000500876.1:p.Gln114=
ENST00000672557.1:c.497G=
ENST00000672652.1:c.500G=
ENST00000675422.1:n.1339G=
ENST00000348925.2:c.579G= ENSP00000314649.3:p.Gln193=
ENST00000357578.7:c.579G= ENSP00000350191.3:p.Gln193=
ENST00000491546.5:c.495G= ENSP00000417687.1:p.Gln165=
NM_001080.3:c.579G= MANE Select NP_001071.1:p.Gln193=
NM_170740.1:c.579G= NP_733936.1:p.Gln193=
NM_001368954.1:c.579G= NP_001355883.1:p.Gln193=