Canonical Allele Identifier: CA3656574
Gene: ALDH5A1 HGNC NCBI
GPLD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24495126C>G , CM000668.2:g.24495126C>G GRCh38
NC_000006.11:g.24495354C>G , CM000668.1:g.24495354C>G GRCh37
NC_000006.10:g.24603333C>G NCBI36
NG_008161.1:g.5158C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.130C>G (ALDH5A1) MANE Select ENSP00000350191.3:p.Leu44Val
ENST00000672652.1:c.51C>G (ALDH5A1)
ENST00000348925.2:c.130C>G (ALDH5A1) ENSP00000314649.3:p.Leu44Val
ENST00000357578.7:c.130C>G (ALDH5A1) ENSP00000350191.3:p.Leu44Val
ENST00000474784.5:n.80G>C (GPLD1)
ENST00000475417.1:n.74G>C (GPLD1)
ENST00000491546.5:c.130C>G (ALDH5A1) ENSP00000417687.1:p.Leu44Val
NM_001080.3:c.130C>G (ALDH5A1) MANE Select NP_001071.1:p.Leu44Val
NM_170740.1:c.130C>G (ALDH5A1) NP_733936.1:p.Leu44Val
XM_017010753.2:c.-116G>C (GPLD1) XP_016866242.1:n.-116G>C
XR_002956277.1:n.107G>C (GPLD1)
NM_001368954.1:c.130C>G (ALDH5A1) NP_001355883.1:p.Leu44Val