Canonical Allele Identifier: CA362969623
Gene: ALDH5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503375A>T , CM000668.2:g.24503375A>T GRCh38
NC_000006.11:g.24503603A>T , CM000668.1:g.24503603A>T GRCh37
NC_000006.10:g.24611582A>T NCBI36
NG_008161.1:g.13407A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.551A>T MANE Select ENSP00000350191.3:p.Lys184Met
ENST00000672352.1:c.314A>T ENSP00000500876.1:p.Lys105Met
ENST00000672557.1:c.469A>T
ENST00000672652.1:c.472A>T
ENST00000675422.1:n.1311A>T
ENST00000348925.2:c.551A>T ENSP00000314649.3:p.Lys184Met
ENST00000357578.7:c.551A>T ENSP00000350191.3:p.Lys184Met
ENST00000491546.5:c.467A>T ENSP00000417687.1:p.Lys156Met
NM_001080.3:c.551A>T MANE Select NP_001071.1:p.Lys184Met
NM_170740.1:c.551A>T NP_733936.1:p.Lys184Met
NM_001368954.1:c.551A>T NP_001355883.1:p.Lys184Met