Canonical Allele Identifier: CA1086958931
Gene: ALDH5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1207250205
gnomAD v3: 6-24503470-A-C
gnomAD v4: 6-24503470-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503470A>C , CM000668.2:g.24503470A>C GRCh38
NC_000006.11:g.24503698A>C , CM000668.1:g.24503698A>C GRCh37
NC_000006.10:g.24611677A>C NCBI36
NG_008161.1:g.13502A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.609+37A>C MANE Select ENSP00000350191.3:n.609+37A>C
ENST00000672352.1:c.372+37A>C ENSP00000500876.1:n.372+37A>C
ENST00000672557.1:c.527+37A>C
ENST00000672652.1:c.530+37A>C
ENST00000675422.1:n.1369+37A>C
ENST00000348925.2:c.609+37A>C ENSP00000314649.3:n.609+37A>C
ENST00000357578.7:c.609+37A>C ENSP00000350191.3:n.609+37A>C
ENST00000491546.5:c.525+37A>C ENSP00000417687.1:n.525+37A>C
NM_001080.3:c.609+37A>C MANE Select NP_001071.1:n.609+37A>C
NM_170740.1:c.609+37A>C NP_733936.1:n.609+37A>C
NM_001368954.1:c.609+37A>C NP_001355883.1:n.609+37A>C