Canonical Allele Identifier: CA362969640
Gene: ALDH5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503382G>T , CM000668.2:g.24503382G>T GRCh38
NC_000006.11:g.24503610G>T , CM000668.1:g.24503610G>T GRCh37
NC_000006.10:g.24611589G>T NCBI36
NG_008161.1:g.13414G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.558G>T MANE Select ENSP00000350191.3:p.Arg186Ser
ENST00000672352.1:c.321G>T ENSP00000500876.1:p.Arg107Ser
ENST00000672557.1:c.476G>T
ENST00000672652.1:c.479G>T
ENST00000675422.1:n.1318G>T
ENST00000348925.2:c.558G>T ENSP00000314649.3:p.Arg186Ser
ENST00000357578.7:c.558G>T ENSP00000350191.3:p.Arg186Ser
ENST00000491546.5:c.474G>T ENSP00000417687.1:p.Arg158Ser
NM_001080.3:c.558G>T MANE Select NP_001071.1:p.Arg186Ser
NM_170740.1:c.558G>T NP_733936.1:p.Arg186Ser
NM_001368954.1:c.558G>T NP_001355883.1:p.Arg186Ser