Canonical Allele Identifier: CA136127716
Gene: ALDH5A1 HGNC NCBI

Linked Data

dbSNP Id: rs988984385
gnomAD v3: 6-24503164-A-G
gnomAD v4: 6-24503164-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503164A>G , CM000668.2:g.24503164A>G GRCh38
NC_000006.11:g.24503392A>G , CM000668.1:g.24503392A>G GRCh37
NC_000006.10:g.24611371A>G NCBI36
NG_008161.1:g.13196A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.439-99A>G MANE Select ENSP00000350191.3:n.439-99A>G
ENST00000672352.1:c.202-99A>G ENSP00000500876.1:n.202-99A>G
ENST00000672557.1:c.357-99A>G
ENST00000672652.1:c.360-99A>G
ENST00000675422.1:n.1199-99A>G
ENST00000348925.2:c.439-99A>G ENSP00000314649.3:n.439-99A>G
ENST00000357578.7:c.439-99A>G ENSP00000350191.3:n.439-99A>G
ENST00000491546.5:c.355-99A>G ENSP00000417687.1:n.355-99A>G
NM_001080.3:c.439-99A>G MANE Select NP_001071.1:n.439-99A>G
NM_170740.1:c.439-99A>G NP_733936.1:n.439-99A>G
NM_001368954.1:c.439-99A>G NP_001355883.1:n.439-99A>G