Canonical Allele Identifier: CA136128330

Gene: ALDH5A1

Linked Data

• ClinVar Variation Id: 449409
• ClinVar RCV Id: RCV000523906 ; RCV002509419
• dbSNP Id: rs72552282
• gnomAD v4: 6-24504927-G-A
• MyVariant Identifiers: chr6:g.24505155G>A (hg19) ; chr6:g.24504927G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24504927G>A , CM000668.2:g.24504927G>A	GRCh38
NC_000006.11:g.24505155G>A , CM000668.1:g.24505155G>A	GRCh37
NC_000006.10:g.24613134G>A	NCBI36
NG_008161.1:g.14959G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.668G>A MANE Select	ENSP00000350191.3:p.Cys223Tyr
ENST00000672352.1:c.431G>A	ENSP00000500876.1:p.Cys144Tyr
ENST00000672557.1:c.586G>A
ENST00000672619.1:n.28G>A
ENST00000672652.1:c.589G>A
ENST00000675422.1:n.1428G>A
ENST00000348925.2:c.668G>A	ENSP00000314649.3:p.Cys223Tyr
ENST00000357578.7:c.668G>A	ENSP00000350191.3:p.Cys223Tyr
ENST00000491546.5:c.584G>A	ENSP00000417687.1:p.Cys195Tyr
NM_001080.3:c.668G>A MANE Select	NP_001071.1:p.Cys223Tyr
NM_170740.1:c.668G>A	NP_733936.1:p.Cys223Tyr
NM_001368954.1:c.668G>A	NP_001355883.1:p.Cys223Tyr