Canonical Allele Identifier: CA2770332155
Gene: ALDH5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24528304_24528306del , CM000668.2:g.24528304_24528306del GRCh38
NC_000006.11:g.24528532_24528534del , CM000668.1:g.24528532_24528534del GRCh37
NC_000006.10:g.24636511_24636513del NCBI36
NG_008161.1:g.38336_38338del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1343+138_1343+140del MANE Select ENSP00000350191.3:n.1343+138_1343+140del
ENST00000479394.2:n.458+138_458+140del
ENST00000672352.1:c.962+138_962+140del ENSP00000500876.1:n.962+138_962+140del
ENST00000672652.1:c.1306+138_1306+140del
ENST00000348925.2:c.1382+138_1382+140del ENSP00000314649.3:n.1382+138_1382+140del
ENST00000357578.7:c.1343+138_1343+140del ENSP00000350191.3:n.1343+138_1343+140del
ENST00000479394.1:n.458+138_458+140del
ENST00000491546.5:c.1259+138_1259+140del ENSP00000417687.1:n.1259+138_1259+140del
NM_001080.3:c.1343+138_1343+140del MANE Select NP_001071.1:n.1343+138_1343+140del
NM_170740.1:c.1382+138_1382+140del NP_733936.1:n.1382+138_1382+140del
NM_001368954.1:c.1199+138_1199+140del NP_001355883.1:n.1199+138_1199+140del