Canonical Allele Identifier: CA823302660
Gene: ALDH5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1190821280

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24528316_24528320del , CM000668.2:g.24528316_24528320del GRCh38
NC_000006.11:g.24528544_24528548del , CM000668.1:g.24528544_24528548del GRCh37
NC_000006.10:g.24636523_24636527del NCBI36
NG_008161.1:g.38348_38352del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1343+150_1343+154del MANE Select ENSP00000350191.3:n.1343+150_1343+154del
ENST00000479394.2:n.458+150_458+154del
ENST00000672352.1:c.962+150_962+154del ENSP00000500876.1:n.962+150_962+154del
ENST00000672652.1:c.1306+150_1306+154del
ENST00000348925.2:c.1382+150_1382+154del ENSP00000314649.3:n.1382+150_1382+154del
ENST00000357578.7:c.1343+150_1343+154del ENSP00000350191.3:n.1343+150_1343+154del
ENST00000479394.1:n.458+150_458+154del
ENST00000491546.5:c.1259+150_1259+154del ENSP00000417687.1:n.1259+150_1259+154del
NM_001080.3:c.1343+150_1343+154del MANE Select NP_001071.1:n.1343+150_1343+154del
NM_170740.1:c.1382+150_1382+154del NP_733936.1:n.1382+150_1382+154del
NM_001368954.1:c.1199+150_1199+154del NP_001355883.1:n.1199+150_1199+154del