Canonical Allele Identifier: CA3656557
Community Standard Title: NM_001080.3(ALDH5A1):c.32G>A (p.Gly11Glu)
Gene: ALDH5A1 HGNC NCBI
GPLD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24495028G>A , CM000668.2:g.24495028G>A GRCh38
NC_000006.11:g.24495256G>A , CM000668.1:g.24495256G>A GRCh37
NC_000006.10:g.24603235G>A NCBI36
NG_008161.1:g.5060G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001080.3:c.32G>A (ALDH5A1) MANE Select NP_001071.1:p.Gly11Glu
ENST00000357578.8:c.32G>A (ALDH5A1) MANE Select ENSP00000350191.3:p.Gly11Glu
NM_001368954.1:c.32G>A (ALDH5A1) NP_001355883.1:p.Gly11Glu
NM_170740.1:c.32G>A (ALDH5A1) NP_733936.1:p.Gly11Glu
ENST00000348925.2:c.32G>A (ALDH5A1) ENSP00000314649.3:p.Gly11Glu
ENST00000357578.7:c.32G>A (ALDH5A1) ENSP00000350191.3:p.Gly11Glu
ENST00000474784.5:n.178C>T (GPLD1)
ENST00000475417.1:n.172C>T (GPLD1)
ENST00000491546.5:c.32G>A (ALDH5A1) ENSP00000417687.1:p.Gly11Glu
XM_011514509.1:c.-18C>T (GPLD1) XP_011512811.1:n.-18C>T
XM_017010753.2:c.-18C>T (GPLD1) XP_016866242.1:n.-18C>T
XR_002956277.1:n.205C>T (GPLD1)