Canonical Allele Identifier: CA362968497

Gene: ALDH5A1 GPLD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24495231C>T , CM000668.2:g.24495231C>T	GRCh38
NC_000006.11:g.24495459C>T , CM000668.1:g.24495459C>T	GRCh37
NC_000006.10:g.24603438C>T	NCBI36
NG_008161.1:g.5263C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.235C>T (ALDH5A1) MANE Select	NP_001071.1:p.Gln79Ter
ENST00000357578.8:c.235C>T (ALDH5A1) MANE Select	ENSP00000350191.3:p.Gln79Ter
NM_001368954.1:c.235C>T (ALDH5A1)	NP_001355883.1:p.Gln79Ter
NM_170740.1:c.235C>T (ALDH5A1)	NP_733936.1:p.Gln79Ter
ENST00000348925.2:c.235C>T (ALDH5A1)	ENSP00000314649.3:p.Gln79Ter
ENST00000357578.7:c.235C>T (ALDH5A1)	ENSP00000350191.3:p.Gln79Ter
ENST00000491546.5:c.235C>T (ALDH5A1)	ENSP00000417687.1:p.Gln79Ter
ENST00000672652.1:c.156C>T (ALDH5A1)
XM_017010753.2:c.-221G>A (GPLD1)	XP_016866242.1:n.-221G>A
XR_002956277.1:n.2G>A (GPLD1)