Canonical Allele Identifier: CA3656934
Community Standard Title: NM_001080.3(ALDH5A1):c.1402+1G>A
Gene: ALDH5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24532178G>A , CM000668.2:g.24532178G>A GRCh38
NC_000006.11:g.24532406G>A , CM000668.1:g.24532406G>A GRCh37
NC_000006.10:g.24640385G>A NCBI36
NG_008161.1:g.42210G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001080.3:c.1402+1G>A MANE Select NP_001071.1:n.1402+1G>A
ENST00000357578.8:c.1402+1G>A MANE Select ENSP00000350191.3:n.1402+1G>A
NM_001368954.1:c.1258+1G>A NP_001355883.1:n.1258+1G>A
NM_170740.1:c.1441+1G>A NP_733936.1:n.1441+1G>A
ENST00000348925.2:c.1441+1G>A ENSP00000314649.3:n.1441+1G>A
ENST00000357578.7:c.1402+1G>A ENSP00000350191.3:n.1402+1G>A
ENST00000479394.1:n.517+1G>A
ENST00000479394.2:n.517+1G>A
ENST00000491546.5:c.1318+1G>A ENSP00000417687.1:n.1318+1G>A
ENST00000492697.1:n.168+1G>A
ENST00000672352.1:c.1021+1G>A ENSP00000500876.1:n.1021+1G>A
ENST00000672652.1:c.1365+1G>A