Canonical Allele Identifier: CA1616535050

Gene: ALDH5A1

Linked Data

• dbSNP Id: rs1759860973
• gnomAD v4: 6-24528273-AGTTGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528278_24528282del , CM000668.2:g.24528278_24528282del	GRCh38
NC_000006.11:g.24528506_24528510del , CM000668.1:g.24528506_24528510del	GRCh37
NC_000006.10:g.24636485_24636489del	NCBI36
NG_008161.1:g.38310_38314del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1343+112_1343+116del MANE Select	ENSP00000350191.3:n.1343+112_1343+116del
ENST00000479394.2:n.458+112_458+116del
ENST00000672352.1:c.962+112_962+116del	ENSP00000500876.1:n.962+112_962+116del
ENST00000672652.1:c.1306+112_1306+116del
ENST00000348925.2:c.1382+112_1382+116del	ENSP00000314649.3:n.1382+112_1382+116del
ENST00000357578.7:c.1343+112_1343+116del	ENSP00000350191.3:n.1343+112_1343+116del
ENST00000479394.1:n.458+112_458+116del
ENST00000491546.5:c.1259+112_1259+116del	ENSP00000417687.1:n.1259+112_1259+116del
NM_001080.3:c.1343+112_1343+116del MANE Select	NP_001071.1:n.1343+112_1343+116del
NM_170740.1:c.1382+112_1382+116del	NP_733936.1:n.1382+112_1382+116del
NM_001368954.1:c.1199+112_1199+116del	NP_001355883.1:n.1199+112_1199+116del