Canonical Allele Identifier: CA1086974952
Gene: ALDH5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1759860584
gnomAD v3: 6-24528250-T-G
gnomAD v4: 6-24528250-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24528250T>G , CM000668.2:g.24528250T>G GRCh38
NC_000006.11:g.24528478T>G , CM000668.1:g.24528478T>G GRCh37
NC_000006.10:g.24636457T>G NCBI36
NG_008161.1:g.38282T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1343+84T>G MANE Select ENSP00000350191.3:n.1343+84T>G
ENST00000479394.2:n.458+84T>G
ENST00000672352.1:c.962+84T>G ENSP00000500876.1:n.962+84T>G
ENST00000672652.1:c.1306+84T>G
ENST00000348925.2:c.1382+84T>G ENSP00000314649.3:n.1382+84T>G
ENST00000357578.7:c.1343+84T>G ENSP00000350191.3:n.1343+84T>G
ENST00000479394.1:n.458+84T>G
ENST00000491546.5:c.1259+84T>G ENSP00000417687.1:n.1259+84T>G
NM_001080.3:c.1343+84T>G MANE Select NP_001071.1:n.1343+84T>G
NM_170740.1:c.1382+84T>G NP_733936.1:n.1382+84T>G
NM_001368954.1:c.1199+84T>G NP_001355883.1:n.1199+84T>G