Canonical Allele Identifier: CA3656562

Gene: ALDH5A1 GPLD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24495040T>G , CM000668.2:g.24495040T>G	GRCh38
NC_000006.11:g.24495268T>G , CM000668.1:g.24495268T>G	GRCh37
NC_000006.10:g.24603247T>G	NCBI36
NG_008161.1:g.5072T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.44T>G (ALDH5A1) MANE Select	NP_001071.1:p.Leu15Arg
ENST00000357578.8:c.44T>G (ALDH5A1) MANE Select	ENSP00000350191.3:p.Leu15Arg
NM_001368954.1:c.44T>G (ALDH5A1)	NP_001355883.1:p.Leu15Arg
NM_170740.1:c.44T>G (ALDH5A1)	NP_733936.1:p.Leu15Arg
ENST00000348925.2:c.44T>G (ALDH5A1)	ENSP00000314649.3:p.Leu15Arg
ENST00000357578.7:c.44T>G (ALDH5A1)	ENSP00000350191.3:p.Leu15Arg
ENST00000474784.5:n.166A>C (GPLD1)
ENST00000475417.1:n.160A>C (GPLD1)
ENST00000491546.5:c.44T>G (ALDH5A1)	ENSP00000417687.1:p.Leu15Arg
XM_011514509.1:c.-30A>C (GPLD1)	XP_011512811.1:n.-30A>C
XM_017010753.2:c.-30A>C (GPLD1)	XP_016866242.1:n.-30A>C
XR_002956277.1:n.193A>C (GPLD1)