Canonical Allele Identifier: CA136139149
Gene: ALDH5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1011959792
gnomAD v3: 6-24527870-A-G
gnomAD v4: 6-24527870-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24527870A>G , CM000668.2:g.24527870A>G GRCh38
NC_000006.11:g.24528098A>G , CM000668.1:g.24528098A>G GRCh37
NC_000006.10:g.24636077A>G NCBI36
NG_008161.1:g.37902A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1174-127A>G MANE Select ENSP00000350191.3:n.1174-127A>G
ENST00000479394.2:n.289-127A>G
ENST00000672352.1:c.793-127A>G ENSP00000500876.1:n.793-127A>G
ENST00000672652.1:c.1137-127A>G
ENST00000348925.2:c.1213-127A>G ENSP00000314649.3:n.1213-127A>G
ENST00000357578.7:c.1174-127A>G ENSP00000350191.3:n.1174-127A>G
ENST00000479394.1:n.289-127A>G
ENST00000491546.5:c.1090-127A>G ENSP00000417687.1:n.1090-127A>G
NM_001080.3:c.1174-127A>G MANE Select NP_001071.1:n.1174-127A>G
NM_170740.1:c.1213-127A>G NP_733936.1:n.1213-127A>G
NM_001368954.1:c.1030-127A>G NP_001355883.1:n.1030-127A>G