Canonical Allele Identifier: CA448958515

Gene: ALDH5A1 GPLD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24495113C>T , CM000668.2:g.24495113C>T	GRCh38
NC_000006.11:g.24495341C>T , CM000668.1:g.24495341C>T	GRCh37
NC_000006.10:g.24603320C>T	NCBI36
NG_008161.1:g.5145C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.117C>T (ALDH5A1) MANE Select	NP_001071.1:p.Pro39=
ENST00000357578.8:c.117C>T (ALDH5A1) MANE Select	ENSP00000350191.3:p.Pro39=
NM_001368954.1:c.117C>T (ALDH5A1)	NP_001355883.1:p.Pro39=
NM_170740.1:c.117C>T (ALDH5A1)	NP_733936.1:p.Pro39=
ENST00000348925.2:c.117C>T (ALDH5A1)	ENSP00000314649.3:p.Pro39=
ENST00000357578.7:c.117C>T (ALDH5A1)	ENSP00000350191.3:p.Pro39=
ENST00000474784.5:n.93G>A (GPLD1)
ENST00000475417.1:n.87G>A (GPLD1)
ENST00000491546.5:c.117C>T (ALDH5A1)	ENSP00000417687.1:p.Pro39=
ENST00000672652.1:c.38C>T (ALDH5A1)
XM_017010753.2:c.-103G>A (GPLD1)	XP_016866242.1:n.-103G>A
XR_002956277.1:n.120G>A (GPLD1)