Canonical Allele Identifier: CA2677529587
Gene: ALDH5A1 HGNC NCBI

Linked Data

gnomAD v4: 6-24528316-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24528316T>C , CM000668.2:g.24528316T>C GRCh38
NC_000006.11:g.24528544T>C , CM000668.1:g.24528544T>C GRCh37
NC_000006.10:g.24636523T>C NCBI36
NG_008161.1:g.38348T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1343+150T>C MANE Select ENSP00000350191.3:n.1343+150T>C
ENST00000479394.2:n.458+150T>C
ENST00000672352.1:c.962+150T>C ENSP00000500876.1:n.962+150T>C
ENST00000672652.1:c.1306+150T>C
ENST00000348925.2:c.1382+150T>C ENSP00000314649.3:n.1382+150T>C
ENST00000357578.7:c.1343+150T>C ENSP00000350191.3:n.1343+150T>C
ENST00000479394.1:n.458+150T>C
ENST00000491546.5:c.1259+150T>C ENSP00000417687.1:n.1259+150T>C
NM_001080.3:c.1343+150T>C MANE Select NP_001071.1:n.1343+150T>C
NM_170740.1:c.1382+150T>C NP_733936.1:n.1382+150T>C
NM_001368954.1:c.1199+150T>C NP_001355883.1:n.1199+150T>C