Canonical Allele Identifier: CA2677527909
Gene: ALDH5A1 HGNC NCBI

Linked Data

gnomAD v4: 6-24503445-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503445G>A , CM000668.2:g.24503445G>A GRCh38
NC_000006.11:g.24503673G>A , CM000668.1:g.24503673G>A GRCh37
NC_000006.10:g.24611652G>A NCBI36
NG_008161.1:g.13477G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.609+12G>A MANE Select ENSP00000350191.3:n.609+12G>A
ENST00000672352.1:c.372+12G>A ENSP00000500876.1:n.372+12G>A
ENST00000672557.1:c.527+12G>A
ENST00000672652.1:c.530+12G>A
ENST00000675422.1:n.1369+12G>A
ENST00000348925.2:c.609+12G>A ENSP00000314649.3:n.609+12G>A
ENST00000357578.7:c.609+12G>A ENSP00000350191.3:n.609+12G>A
ENST00000491546.5:c.525+12G>A ENSP00000417687.1:n.525+12G>A
NM_001080.3:c.609+12G>A MANE Select NP_001071.1:n.609+12G>A
NM_170740.1:c.609+12G>A NP_733936.1:n.609+12G>A
NM_001368954.1:c.609+12G>A NP_001355883.1:n.609+12G>A