Canonical Allele Identifier: CA566286689
Gene: ALDH5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1207250205
gnomAD v2: 6-24503698-A-G
gnomAD v4: 6-24503470-A-G

Genomic Alleles

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

Transcript Alleles

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