Canonical Allele Identifier: CA823302047

Gene: ALDH5A1

Linked Data

• dbSNP Id: rs1433287663
• gnomAD v3: 6-24527874-TTTA-T
• gnomAD v4: 6-24527874-TTTA-T
• MyVariant Identifiers: chr6:g.24528103_24528105del (hg19) ; chr6:g.24527875_24527877del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24527877_24527879del , CM000668.2:g.24527877_24527879del	GRCh38
NC_000006.11:g.24528105_24528107del , CM000668.1:g.24528105_24528107del	GRCh37
NC_000006.10:g.24636084_24636086del	NCBI36
NG_008161.1:g.37909_37911del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1174-120_1174-118del MANE Select	ENSP00000350191.3:n.1174-120_1174-118del
ENST00000479394.2:n.289-120_289-118del
ENST00000672352.1:c.793-120_793-118del	ENSP00000500876.1:n.793-120_793-118del
ENST00000672652.1:c.1137-120_1137-118del
ENST00000348925.2:c.1213-120_1213-118del	ENSP00000314649.3:n.1213-120_1213-118del
ENST00000357578.7:c.1174-120_1174-118del	ENSP00000350191.3:n.1174-120_1174-118del
ENST00000479394.1:n.289-120_289-118del
ENST00000491546.5:c.1090-120_1090-118del	ENSP00000417687.1:n.1090-120_1090-118del
NM_001080.3:c.1174-120_1174-118del MANE Select	NP_001071.1:n.1174-120_1174-118del
NM_170740.1:c.1213-120_1213-118del	NP_733936.1:n.1213-120_1213-118del
NM_001368954.1:c.1030-120_1030-118del	NP_001355883.1:n.1030-120_1030-118del