Canonical Allele Identifier: CA3656796
Community Standard Title: NM_001080.3(ALDH5A1):c.924C>T (p.Gly308=)
Gene: ALDH5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24520454C>T , CM000668.2:g.24520454C>T GRCh38
NC_000006.11:g.24520682C>T , CM000668.1:g.24520682C>T GRCh37
NC_000006.10:g.24628661C>T NCBI36
NG_008161.1:g.30486C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001080.3:c.924C>T MANE Select NP_001071.1:p.Gly308=
ENST00000357578.8:c.924C>T MANE Select ENSP00000350191.3:p.Gly308=
NM_001368954.1:c.780C>T NP_001355883.1:p.Gly260=
NM_170740.1:c.963C>T NP_733936.1:p.Gly321=
ENST00000348925.2:c.963C>T ENSP00000314649.3:p.Gly321=
ENST00000357578.7:c.924C>T ENSP00000350191.3:p.Gly308=
ENST00000491546.5:c.840C>T ENSP00000417687.1:p.Gly280=
ENST00000672352.1:c.543C>T ENSP00000500876.1:p.Gly181=
ENST00000672557.1:c.842C>T
ENST00000672619.1:n.284C>T
ENST00000672652.1:c.887C>T