Canonical Allele Identifier: CA1086958908

Gene: ALDH5A1

Linked Data

• dbSNP Id: rs1759250573
• gnomAD v3: 6-24503418-T-TGCA
• gnomAD v4: 6-24503418-T-TGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503420_24503422dup , CM000668.2:g.24503420_24503422dup	GRCh38
NC_000006.11:g.24503648_24503650dup , CM000668.1:g.24503648_24503650dup	GRCh37
NC_000006.10:g.24611627_24611629dup	NCBI36
NG_008161.1:g.13452_13454dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.596_598dup MANE Select	ENSP00000350191.3:p.Ala199_Val200insAla
ENST00000672352.1:c.359_361dup	ENSP00000500876.1:p.Ala120_Val121insAla
ENST00000672557.1:c.514_516dup
ENST00000672652.1:c.517_519dup
ENST00000675422.1:n.1356_1358dup
ENST00000348925.2:c.596_598dup	ENSP00000314649.3:p.Ala199_Val200insAla
ENST00000357578.7:c.596_598dup	ENSP00000350191.3:p.Ala199_Val200insAla
ENST00000491546.5:c.512_514dup	ENSP00000417687.1:p.Ala171_Val172insAla
NM_001080.3:c.596_598dup MANE Select	NP_001071.1:p.Ala199_Val200insAla
NM_170740.1:c.596_598dup	NP_733936.1:p.Ala199_Val200insAla
NM_001368954.1:c.596_598dup	NP_001355883.1:p.Ala199_Val200insAla