Canonical Allele Identifier: CA362969647
Gene: ALDH5A1 HGNC NCBI

Linked Data

gnomAD v4: 6-24503387-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503387C>A , CM000668.2:g.24503387C>A GRCh38
NC_000006.11:g.24503615C>A , CM000668.1:g.24503615C>A GRCh37
NC_000006.10:g.24611594C>A NCBI36
NG_008161.1:g.13419C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.563C>A MANE Select ENSP00000350191.3:p.Ala188Asp
ENST00000672352.1:c.326C>A ENSP00000500876.1:p.Ala109Asp
ENST00000672557.1:c.481C>A
ENST00000672652.1:c.484C>A
ENST00000675422.1:n.1323C>A
ENST00000348925.2:c.563C>A ENSP00000314649.3:p.Ala188Asp
ENST00000357578.7:c.563C>A ENSP00000350191.3:p.Ala188Asp
ENST00000491546.5:c.479C>A ENSP00000417687.1:p.Ala160Asp
NM_001080.3:c.563C>A MANE Select NP_001071.1:p.Ala188Asp
NM_170740.1:c.563C>A NP_733936.1:p.Ala188Asp
NM_001368954.1:c.563C>A NP_001355883.1:p.Ala188Asp