Canonical Allele Identifier: CA136122195

Gene: ALDH5A1 GPLD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24495195G>A , CM000668.2:g.24495195G>A	GRCh38
NC_000006.11:g.24495423G>A , CM000668.1:g.24495423G>A	GRCh37
NC_000006.10:g.24603402G>A	NCBI36
NG_008161.1:g.5227G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.199G>A (ALDH5A1) MANE Select	NP_001071.1:p.Gly67Ser
ENST00000357578.8:c.199G>A (ALDH5A1) MANE Select	ENSP00000350191.3:p.Gly67Ser
NM_001368954.1:c.199G>A (ALDH5A1)	NP_001355883.1:p.Gly67Ser
NM_170740.1:c.199G>A (ALDH5A1)	NP_733936.1:p.Gly67Ser
ENST00000348925.2:c.199G>A (ALDH5A1)	ENSP00000314649.3:p.Gly67Ser
ENST00000357578.7:c.199G>A (ALDH5A1)	ENSP00000350191.3:p.Gly67Ser
ENST00000474784.5:n.11C>T (GPLD1)
ENST00000475417.1:n.5C>T (GPLD1)
ENST00000491546.5:c.199G>A (ALDH5A1)	ENSP00000417687.1:p.Gly67Ser
ENST00000672652.1:c.120G>A (ALDH5A1)
XM_017010753.2:c.-185C>T (GPLD1)	XP_016866242.1:n.-185C>T
XR_002956277.1:n.38C>T (GPLD1)