Canonical Allele Identifier: CA10576132
Gene: ALDH5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 225890
dbSNP Id: rs875989801

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24528167_24528169delinsTT , CM000668.2:g.24528167_24528169delinsTT GRCh38
NC_000006.11:g.24528395_24528397delinsTT , CM000668.1:g.24528395_24528397delinsTT GRCh37
NC_000006.10:g.24636374_24636376delinsTT NCBI36
NG_008161.1:g.38199_38201delinsTT

Transcript Alleles

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